Canonical Allele Identifier: CA304067432

Gene: GAMT

Linked Data

• dbSNP Id: rs889910013
• gnomAD v4: 19-1401537-G-C
• MyVariant Identifiers: chr19:g.1401536G>C (hg19) ; chr19:g.1401537G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1401537G>C , CM000681.2:g.1401537G>C	GRCh38
NC_000019.9:g.1401536G>C , CM000681.1:g.1401536G>C	GRCh37
NC_000019.8:g.1352536G>C	NCBI36
NG_009785.1:g.5017C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252288.8:c.-61C>G MANE Select	ENSP00000252288.1:n.-61C>G
ENST00000447102.8:c.-61C>G	ENSP00000403536.2:n.-61C>G
ENST00000252288.6:c.-61C>G	ENSP00000252288.1:n.-61C>G
ENST00000447102.7:c.-61C>G	ENSP00000403536.2:n.-61C>G
NM_000156.5:c.-61C>G	NP_000147.1:n.-61C>G
NM_138924.2:c.-61C>G	NP_620279.1:n.-61C>G
NM_000156.6:c.-61C>G MANE Select	NP_000147.1:n.-61C>G
NM_138924.3:c.-61C>G	NP_620279.1:n.-61C>G