Canonical Allele Identifier: CA402995333
Gene: GAMT HGNC NCBI

Linked Data

ClinVar Variation Id: 430374
ClinVar RCV Id: RCV000493730 RCV001303060 RCV003159126
dbSNP Id: rs1131691930
gnomAD v2: 19-1399176-T-G
gnomAD v3: 19-1399177-T-G
gnomAD v4: 19-1399177-T-G
MyVariant Identifiers: chr19:g.1399176T>G (hg19) chr19:g.1399177T>G (hg38)
ERepo: CA402995333/MONDO:0012999/026
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1399177T>G , CM000681.2:g.1399177T>G GRCh38
NC_000019.9:g.1399176T>G , CM000681.1:g.1399176T>G GRCh37
NC_000019.8:g.1350176T>G NCBI36
NG_009785.1:g.7377A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.410A>C MANE Select ENSP00000252288.1:p.Tyr137Ser
ENST00000447102.8:c.410A>C ENSP00000403536.2:p.Tyr137Ser
ENST00000591788.3:c.93A>C
ENST00000640164.1:n.243A>C
ENST00000640762.1:c.341A>C ENSP00000492031.1:p.Tyr114Ser
ENST00000252288.6:c.410A>C ENSP00000252288.1:p.Tyr137Ser
ENST00000447102.7:c.410A>C ENSP00000403536.2:p.Tyr137Ser
ENST00000591788.2:c.95A>C ENSP00000466341.2:p.Tyr32Ser
NM_000156.5:c.410A>C NP_000147.1:p.Tyr137Ser
NM_138924.2:c.410A>C NP_620279.1:p.Tyr137Ser
NM_000156.6:c.410A>C MANE Select NP_000147.1:p.Tyr137Ser
NM_138924.3:c.410A>C NP_620279.1:p.Tyr137Ser
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