Canonical Allele Identifier: CA2573155790

Gene: GAMT

Linked Data

• ClinVar Variation Id: 1561507
• ClinVar RCV Id: RCV002211879
• dbSNP Id: rs2144636697

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1399120A>G , CM000681.2:g.1399120A>G	GRCh38
NC_000019.9:g.1399119A>G , CM000681.1:g.1399119A>G	GRCh37
NC_000019.8:g.1350119A>G	NCBI36
NG_009785.1:g.7434T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252288.8:c.459+8T>C MANE Select	ENSP00000252288.1:n.459+8T>C
ENST00000447102.8:c.459+8T>C	ENSP00000403536.2:n.459+8T>C
ENST00000591788.3:c.142+8T>C
ENST00000640164.1:n.292+8T>C
ENST00000640762.1:c.390+8T>C	ENSP00000492031.1:n.390+8T>C
ENST00000252288.6:c.459+8T>C	ENSP00000252288.1:n.459+8T>C
ENST00000447102.7:c.459+8T>C	ENSP00000403536.2:n.459+8T>C
ENST00000591788.2:c.144+8T>C	ENSP00000466341.2:n.144+8T>C
NM_000156.5:c.459+8T>C	NP_000147.1:n.459+8T>C
NM_138924.2:c.459+8T>C	NP_620279.1:n.459+8T>C
NM_000156.6:c.459+8T>C MANE Select	NP_000147.1:n.459+8T>C
NM_138924.3:c.459+8T>C	NP_620279.1:n.459+8T>C