Canonical Allele Identifier: CA304065969
Gene: GAMT HGNC NCBI

Linked Data

dbSNP Id: rs1050914
gnomAD v4: 19-1398993-C-A
MyVariant Identifiers: chr19:g.1398992C>A (hg19) chr19:g.1398993C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1398993C>A , CM000681.2:g.1398993C>A GRCh38
NC_000019.9:g.1398992C>A , CM000681.1:g.1398992C>A GRCh37
NC_000019.8:g.1349992C>A NCBI36
NG_009785.1:g.7561G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.493G>T MANE Select ENSP00000252288.1:p.Val165Phe
ENST00000447102.8:c.493G>T ENSP00000403536.2:p.Val165Phe
ENST00000591788.3:c.176G>T
ENST00000640164.1:n.326G>T
ENST00000640762.1:c.424G>T ENSP00000492031.1:p.Val142Phe
ENST00000252288.6:c.493G>T ENSP00000252288.1:p.Val165Phe
ENST00000447102.7:c.493G>T ENSP00000403536.2:p.Val165Phe
ENST00000591788.2:c.178G>T ENSP00000466341.2:p.Val60Phe
NM_000156.5:c.493G>T NP_000147.1:p.Val165Phe
NM_138924.2:c.493G>T NP_620279.1:p.Val165Phe
NM_000156.6:c.493G>T MANE Select NP_000147.1:p.Val165Phe
NM_138924.3:c.493G>T NP_620279.1:p.Val165Phe
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