Canonical Allele Identifier: CA783506664

Gene: GAMT

Linked Data

• dbSNP Id: rs1198262971
• gnomAD v4: 19-1399445-G-C
• MyVariant Identifiers: chr19:g.1399444G>C (hg19) ; chr19:g.1399445G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1399445G>C , CM000681.2:g.1399445G>C	GRCh38
NC_000019.9:g.1399444G>C , CM000681.1:g.1399444G>C	GRCh37
NC_000019.8:g.1350444G>C	NCBI36
NG_009785.1:g.7109C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252288.8:c.391+79C>G MANE Select	ENSP00000252288.1:n.391+79C>G
ENST00000447102.8:c.391+79C>G	ENSP00000403536.2:n.391+79C>G
ENST00000591788.3:c.74+79C>G
ENST00000640164.1:n.224+79C>G
ENST00000640762.1:c.322+79C>G	ENSP00000492031.1:n.322+79C>G
ENST00000252288.6:c.391+79C>G	ENSP00000252288.1:n.391+79C>G
ENST00000447102.7:c.391+79C>G	ENSP00000403536.2:n.391+79C>G
ENST00000591788.2:c.76+79C>G	ENSP00000466341.2:n.76+79C>G
NM_000156.5:c.391+79C>G	NP_000147.1:n.391+79C>G
NM_138924.2:c.391+79C>G	NP_620279.1:n.391+79C>G
NM_000156.6:c.391+79C>G MANE Select	NP_000147.1:n.391+79C>G
NM_138924.3:c.391+79C>G	NP_620279.1:n.391+79C>G