Canonical Allele Identifier: CA2317700538

Gene: GAMT

Linked Data

• dbSNP Id: rs2082634555
• gnomAD v4: 19-1401534-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1401534C>A , CM000681.2:g.1401534C>A	GRCh38
NC_000019.9:g.1401533C>A , CM000681.1:g.1401533C>A	GRCh37
NC_000019.8:g.1352533C>A	NCBI36
NG_009785.1:g.5020G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252288.8:c.-58G>T MANE Select	ENSP00000252288.1:n.-58G>T
ENST00000447102.8:c.-58G>T	ENSP00000403536.2:n.-58G>T
ENST00000252288.6:c.-58G>T	ENSP00000252288.1:n.-58G>T
ENST00000447102.7:c.-58G>T	ENSP00000403536.2:n.-58G>T
NM_000156.5:c.-58G>T	NP_000147.1:n.-58G>T
NM_138924.2:c.-58G>T	NP_620279.1:n.-58G>T
NM_000156.6:c.-58G>T MANE Select	NP_000147.1:n.-58G>T
NM_138924.3:c.-58G>T	NP_620279.1:n.-58G>T