Canonical Allele Identifier: CA2317700537

Gene: GAMT

Linked Data

• dbSNP Id: rs1462828814
• gnomAD v4: 19-1401533-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1401533G>A , CM000681.2:g.1401533G>A	GRCh38
NC_000019.9:g.1401532G>A , CM000681.1:g.1401532G>A	GRCh37
NC_000019.8:g.1352532G>A	NCBI36
NG_009785.1:g.5021C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252288.8:c.-57C>T MANE Select	ENSP00000252288.1:n.-57C>T
ENST00000447102.8:c.-57C>T	ENSP00000403536.2:n.-57C>T
ENST00000252288.6:c.-57C>T	ENSP00000252288.1:n.-57C>T
ENST00000447102.7:c.-57C>T	ENSP00000403536.2:n.-57C>T
NM_000156.5:c.-57C>T	NP_000147.1:n.-57C>T
NM_138924.2:c.-57C>T	NP_620279.1:n.-57C>T
NM_000156.6:c.-57C>T MANE Select	NP_000147.1:n.-57C>T
NM_138924.3:c.-57C>T	NP_620279.1:n.-57C>T