Canonical Allele Identifier: CA402992777

Gene: GAMT

Linked Data

• dbSNP Id: rs1396154123
• gnomAD v2: 19-1398775-A-G
• gnomAD v4: 19-1398776-A-G
• MyVariant Identifiers: chr19:g.1398775A>G (hg19) ; chr19:g.1398776A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1398776A>G , CM000681.2:g.1398776A>G	GRCh38
NC_000019.9:g.1398775A>G , CM000681.1:g.1398775A>G	GRCh37
NC_000019.8:g.1349775A>G	NCBI36
NG_009785.1:g.7778T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252288.8:c.570+140T>C MANE Select	ENSP00000252288.1:n.570+140T>C
ENST00000447102.8:c.710T>C	ENSP00000403536.2:p.Leu237Ser
ENST00000591788.3:c.254-29T>C
ENST00000640164.1:n.403+140T>C
ENST00000640762.1:c.501+140T>C	ENSP00000492031.1:n.501+140T>C
ENST00000252288.6:c.570+140T>C	ENSP00000252288.1:n.570+140T>C
ENST00000447102.7:c.710T>C	ENSP00000403536.2:p.Leu237Ser
ENST00000591788.2:c.256-29T>C	ENSP00000466341.2:n.256-29T>C
NM_000156.5:c.570+140T>C	NP_000147.1:n.570+140T>C
NM_138924.2:c.710T>C	NP_620279.1:p.Leu237Ser
NM_000156.6:c.570+140T>C MANE Select	NP_000147.1:n.570+140T>C
NM_138924.3:c.710T>C	NP_620279.1:p.Leu237Ser