Canonical Allele Identifier: CA402998372

Gene: GAMT

Linked Data

• ClinVar Variation Id: 856428
• ClinVar RCV Id: RCV001061889 ; RCV001827392
• dbSNP Id: rs2082633520
• MyVariant Identifiers: chr19:g.1401430A>C (hg19) ; chr19:g.1401431A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1401431A>C , CM000681.2:g.1401431A>C	GRCh38
NC_000019.9:g.1401430A>C , CM000681.1:g.1401430A>C	GRCh37
NC_000019.8:g.1352430A>C	NCBI36
NG_009785.1:g.5123T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000252288.8:c.46T>G MANE Select	ENSP00000252288.1:p.Cys16Gly
ENST00000447102.8:c.46T>G	ENSP00000403536.2:p.Cys16Gly
ENST00000640762.1:c.46T>G	ENSP00000492031.1:p.Cys16Gly
ENST00000252288.6:c.46T>G	ENSP00000252288.1:p.Cys16Gly
ENST00000447102.7:c.46T>G	ENSP00000403536.2:p.Cys16Gly
NM_000156.5:c.46T>G	NP_000147.1:p.Cys16Gly
NM_138924.2:c.46T>G	NP_620279.1:p.Cys16Gly
NM_000156.6:c.46T>G MANE Select	NP_000147.1:p.Cys16Gly
NM_138924.3:c.46T>G	NP_620279.1:p.Cys16Gly