Canonical Allele Identifier: CA504731706
Gene: GAMT HGNC NCBI

Linked Data

dbSNP Id: rs1262024771
gnomAD v3: 19-1401420-C-G
gnomAD v4: 19-1401420-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1401420C>G , CM000681.2:g.1401420C>G GRCh38
NC_000019.9:g.1401419C>G , CM000681.1:g.1401419C>G GRCh37
NC_000019.8:g.1352419C>G NCBI36
NG_009785.1:g.5134G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000252288.8:c.57G>C MANE Select ENSP00000252288.1:p.Ala19=
ENST00000447102.8:c.57G>C ENSP00000403536.2:p.Ala19=
ENST00000640762.1:c.57G>C ENSP00000492031.1:p.Ala19=
ENST00000252288.6:c.57G>C ENSP00000252288.1:p.Ala19=
ENST00000447102.7:c.57G>C ENSP00000403536.2:p.Ala19=
NM_000156.5:c.57G>C NP_000147.1:p.Ala19=
NM_138924.2:c.57G>C NP_620279.1:p.Ala19=
NM_000156.6:c.57G>C MANE Select NP_000147.1:p.Ala19=
NM_138924.3:c.57G>C NP_620279.1:p.Ala19=