Canonical Allele Identifier: CA2582641796

Gene: GAMT

Linked Data

• gnomAD v4: 19-1401222-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1401222T>G , CM000681.2:g.1401222T>G	GRCh38
NC_000019.9:g.1401221T>G , CM000681.1:g.1401221T>G	GRCh37
NC_000019.8:g.1352221T>G	NCBI36
NG_009785.1:g.5332A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252288.8:c.181+74A>C MANE Select	ENSP00000252288.1:n.181+74A>C
ENST00000447102.8:c.181+74A>C	ENSP00000403536.2:n.181+74A>C
ENST00000640762.1:c.112+143A>C	ENSP00000492031.1:n.112+143A>C
ENST00000252288.6:c.181+74A>C	ENSP00000252288.1:n.181+74A>C
ENST00000447102.7:c.181+74A>C	ENSP00000403536.2:n.181+74A>C
NM_000156.5:c.181+74A>C	NP_000147.1:n.181+74A>C
NM_138924.2:c.181+74A>C	NP_620279.1:n.181+74A>C
NM_000156.6:c.181+74A>C MANE Select	NP_000147.1:n.181+74A>C
NM_138924.3:c.181+74A>C	NP_620279.1:n.181+74A>C