Canonical Allele Identifier: CA2582641421

Gene: GAMT

Linked Data

• gnomAD v4: 19-1399719-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1399719C>G , CM000681.2:g.1399719C>G	GRCh38
NC_000019.9:g.1399718C>G , CM000681.1:g.1399718C>G	GRCh37
NC_000019.8:g.1350718C>G	NCBI36
NG_009785.1:g.6835G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252288.8:c.327+74G>C MANE Select	ENSP00000252288.1:n.327+74G>C
ENST00000447102.8:c.327+74G>C	ENSP00000403536.2:n.327+74G>C
ENST00000591788.3:c.10+74G>C
ENST00000640164.1:n.29G>C
ENST00000640762.1:c.258+74G>C	ENSP00000492031.1:n.258+74G>C
ENST00000252288.6:c.327+74G>C	ENSP00000252288.1:n.327+74G>C
ENST00000447102.7:c.327+74G>C	ENSP00000403536.2:n.327+74G>C
ENST00000591788.2:c.12+74G>C	ENSP00000466341.2:n.12+74G>C
NM_000156.5:c.327+74G>C	NP_000147.1:n.327+74G>C
NM_138924.2:c.327+74G>C	NP_620279.1:n.327+74G>C
NM_000156.6:c.327+74G>C MANE Select	NP_000147.1:n.327+74G>C
NM_138924.3:c.327+74G>C	NP_620279.1:n.327+74G>C