Canonical Allele Identifier: CA402998001

Gene: GAMT

Linked Data

• ClinVar Variation Id: 835475
• ClinVar RCV Id: RCV001036364
• dbSNP Id: rs2082632221
• gnomAD v4: 19-1401307-G-A
• MyVariant Identifiers: chr19:g.1401306G>A (hg19) ; chr19:g.1401307G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1401307G>A , CM000681.2:g.1401307G>A	GRCh38
NC_000019.9:g.1401306G>A , CM000681.1:g.1401306G>A	GRCh37
NC_000019.8:g.1352306G>A	NCBI36
NG_009785.1:g.5247C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252288.8:c.170C>T MANE Select	ENSP00000252288.1:p.Ala57Val
ENST00000447102.8:c.170C>T	ENSP00000403536.2:p.Ala57Val
ENST00000640762.1:c.112+58C>T	ENSP00000492031.1:n.112+58C>T
ENST00000252288.6:c.170C>T	ENSP00000252288.1:p.Ala57Val
ENST00000447102.7:c.170C>T	ENSP00000403536.2:p.Ala57Val
NM_000156.5:c.170C>T	NP_000147.1:p.Ala57Val
NM_138924.2:c.170C>T	NP_620279.1:p.Ala57Val
NM_000156.6:c.170C>T MANE Select	NP_000147.1:p.Ala57Val
NM_138924.3:c.170C>T	NP_620279.1:p.Ala57Val