Canonical Allele Identifier: CA402998326
Gene: GAMT HGNC NCBI

Linked Data

ClinVar Variation Id: 588631
dbSNP Id: rs80338734
gnomAD v3: 19-1401418-C-A
gnomAD v4: 19-1401418-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1401418C>A , CM000681.2:g.1401418C>A GRCh38
NC_000019.9:g.1401417C>A , CM000681.1:g.1401417C>A GRCh37
NC_000019.8:g.1352417C>A NCBI36
NG_009785.1:g.5136G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.59G>T MANE Select ENSP00000252288.1:p.Trp20Leu
ENST00000447102.8:c.59G>T ENSP00000403536.2:p.Trp20Leu
ENST00000640762.1:c.59G>T ENSP00000492031.1:p.Trp20Leu
ENST00000252288.6:c.59G>T ENSP00000252288.1:p.Trp20Leu
ENST00000447102.7:c.59G>T ENSP00000403536.2:p.Trp20Leu
NM_000156.5:c.59G>T NP_000147.1:p.Trp20Leu
NM_138924.2:c.59G>T NP_620279.1:p.Trp20Leu
NM_000156.6:c.59G>T MANE Select NP_000147.1:p.Trp20Leu
NM_138924.3:c.59G>T NP_620279.1:p.Trp20Leu