Canonical Allele Identifier: CA401327145
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 551132
ClinVar RCV Id: RCV000666112
dbSNP Id: rs1555603272
MyVariant Identifiers: chr17:g.78092549A>C (hg19) chr17:g.80118750A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80118750A>C , CM000679.2:g.80118750A>C GRCh38
NC_000017.10:g.78092549A>C , CM000679.1:g.78092549A>C GRCh37
NC_000017.9:g.75707144A>C NCBI36
NG_009822.1:g.22195A>C , LRG_673:g.22195A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000570803.6:c.2744A>C ENSP00000460543.2:p.Gln915Pro
ENST00000572080.2:c.*882A>C ENSP00000459972.2:n.*882A>C
ENST00000577106.6:c.2744A>C ENSP00000458306.2:p.Gln915Pro
ENST00000302262.8:c.2744A>C MANE Select ENSP00000305692.3:p.Gln915Pro
ENST00000302262.7:c.2744A>C ENSP00000305692.3:p.Gln915Pro
ENST00000390015.7:c.2744A>C ENSP00000374665.3:p.Gln915Pro
ENST00000573556.1:n.697A>C
NM_000152.3:c.2744A>C , LRG_673t1:c.2744A>C NP_000143.2:p.Gln915Pro
NM_001079803.1:c.2744A>C NP_001073271.1:p.Gln915Pro
NM_001079804.1:c.2744A>C NP_001073272.1:p.Gln915Pro
XM_005257193.1:c.2744A>C XP_005257250.1:p.Gln915Pro
XM_005257194.3:c.2744A>C XP_005257251.1:p.Gln915Pro
NM_000152.4:c.2744A>C NP_000143.2:p.Gln915Pro
NM_001079803.2:c.2744A>C NP_001073271.1:p.Gln915Pro
NM_001079804.2:c.2744A>C NP_001073272.1:p.Gln915Pro
XM_005257193.2:c.2744A>C XP_005257250.1:p.Gln915Pro
XM_005257194.4:c.2744A>C XP_005257251.1:p.Gln915Pro
NM_000152.5:c.2744A>C MANE Select NP_000143.2:p.Gln915Pro
NM_001079803.3:c.2744A>C NP_001073271.1:p.Gln915Pro
NM_001079804.3:c.2744A>C NP_001073272.1:p.Gln915Pro
Search 100 bp 5'
Search 100 bp 3'