Canonical Allele Identifier: CA504731681

Gene: GAMT

Linked Data

• ClinVar Variation Id: 2813493
• ClinVar RCV Id: RCV003747005
• MyVariant Identifiers: chr19:g.1401407C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1401408C>G , CM000681.2:g.1401408C>G	GRCh38
NC_000019.9:g.1401407C>G , CM000681.1:g.1401407C>G	GRCh37
NC_000019.8:g.1352407C>G	NCBI36
NG_009785.1:g.5146G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000252288.8:c.69G>C MANE Select	ENSP00000252288.1:p.Ala23=
ENST00000447102.8:c.69G>C	ENSP00000403536.2:p.Ala23=
ENST00000640762.1:c.69G>C	ENSP00000492031.1:p.Ala23=
ENST00000252288.6:c.69G>C	ENSP00000252288.1:p.Ala23=
ENST00000447102.7:c.69G>C	ENSP00000403536.2:p.Ala23=
NM_000156.5:c.69G>C	NP_000147.1:p.Ala23=
NM_138924.2:c.69G>C	NP_620279.1:p.Ala23=
NM_000156.6:c.69G>C MANE Select	NP_000147.1:p.Ala23=
NM_138924.3:c.69G>C	NP_620279.1:p.Ala23=