Canonical Allele Identifier: CA401325305
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 1693550
ClinVar RCV Id: RCV002260943 RCV003491062
dbSNP Id: rs374687883
gnomAD v4: 17-80117724-G-C
MyVariant Identifiers: chr17:g.78091523G>C (hg19) chr17:g.80117724G>C (hg38)
ERepo: CA401325305/MONDO:0009290/010
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80117724G>C , CM000679.2:g.80117724G>C GRCh38
NC_000017.10:g.78091523G>C , CM000679.1:g.78091523G>C GRCh37
NC_000017.9:g.75706118G>C NCBI36
NG_009822.1:g.21169G>C , LRG_673:g.21169G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000570803.6:c.2456G>C ENSP00000460543.2:p.Arg819Pro
ENST00000572080.2:c.*594G>C ENSP00000459972.2:n.*594G>C
ENST00000577106.6:c.2456G>C ENSP00000458306.2:p.Arg819Pro
ENST00000302262.8:c.2456G>C MANE Select ENSP00000305692.3:p.Arg819Pro
ENST00000302262.7:c.2456G>C ENSP00000305692.3:p.Arg819Pro
ENST00000390015.7:c.2456G>C ENSP00000374665.3:p.Arg819Pro
ENST00000573556.1:n.409G>C
NM_000152.3:c.2456G>C , LRG_673t1:c.2456G>C NP_000143.2:p.Arg819Pro
NM_001079803.1:c.2456G>C NP_001073271.1:p.Arg819Pro
NM_001079804.1:c.2456G>C NP_001073272.1:p.Arg819Pro
XM_005257193.1:c.2456G>C XP_005257250.1:p.Arg819Pro
XM_005257194.3:c.2456G>C XP_005257251.1:p.Arg819Pro
NM_000152.4:c.2456G>C NP_000143.2:p.Arg819Pro
NM_001079803.2:c.2456G>C NP_001073271.1:p.Arg819Pro
NM_001079804.2:c.2456G>C NP_001073272.1:p.Arg819Pro
XM_005257193.2:c.2456G>C XP_005257250.1:p.Arg819Pro
XM_005257194.4:c.2456G>C XP_005257251.1:p.Arg819Pro
NM_000152.5:c.2456G>C MANE Select NP_000143.2:p.Arg819Pro
NM_001079803.3:c.2456G>C NP_001073271.1:p.Arg819Pro
NM_001079804.3:c.2456G>C NP_001073272.1:p.Arg819Pro
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