Canonical Allele Identifier: CA402998114

Gene: GAMT

Linked Data

• dbSNP Id: rs1381444164
• gnomAD v2: 19-1401351-A-G
• gnomAD v4: 19-1401352-A-G
• MyVariant Identifiers: chr19:g.1401351A>G (hg19) ; chr19:g.1401352A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1401352A>G , CM000681.2:g.1401352A>G	GRCh38
NC_000019.9:g.1401351A>G , CM000681.1:g.1401351A>G	GRCh37
NC_000019.8:g.1352351A>G	NCBI36
NG_009785.1:g.5202T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000252288.8:c.125T>C MANE Select	ENSP00000252288.1:p.Met42Thr
ENST00000447102.8:c.125T>C	ENSP00000403536.2:p.Met42Thr
ENST00000640762.1:c.112+13T>C	ENSP00000492031.1:n.112+13T>C
ENST00000252288.6:c.125T>C	ENSP00000252288.1:p.Met42Thr
ENST00000447102.7:c.125T>C	ENSP00000403536.2:p.Met42Thr
NM_000156.5:c.125T>C	NP_000147.1:p.Met42Thr
NM_138924.2:c.125T>C	NP_620279.1:p.Met42Thr
NM_000156.6:c.125T>C MANE Select	NP_000147.1:p.Met42Thr
NM_138924.3:c.125T>C	NP_620279.1:p.Met42Thr