Canonical Allele Identifier: CA9043599

Gene: GAMT

Linked Data

• ClinVar Variation Id: 2294234
• ClinVar RCV Id: RCV002859900
• dbSNP Id: rs772258170
• ExAC: 19:1398869 C / T
• gnomAD v2: 19-1398869-C-T
• gnomAD v4: 19-1398870-C-T
• MyVariant Identifiers: chr19:g.1398869C>T (hg19) ; chr19:g.1398870C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1398870C>T , CM000681.2:g.1398870C>T	GRCh38
NC_000019.9:g.1398869C>T , CM000681.1:g.1398869C>T	GRCh37
NC_000019.8:g.1349869C>T	NCBI36
NG_009785.1:g.7684G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000252288.8:c.570+46G>A MANE Select	ENSP00000252288.1:n.570+46G>A
ENST00000447102.8:c.616G>A	ENSP00000403536.2:p.Gly206Arg
ENST00000591788.3:c.253+46G>A
ENST00000640164.1:n.403+46G>A
ENST00000640762.1:c.501+46G>A	ENSP00000492031.1:n.501+46G>A
ENST00000252288.6:c.570+46G>A	ENSP00000252288.1:n.570+46G>A
ENST00000447102.7:c.616G>A	ENSP00000403536.2:p.Gly206Arg
ENST00000591788.2:c.255+46G>A	ENSP00000466341.2:n.255+46G>A
NM_000156.5:c.570+46G>A	NP_000147.1:n.570+46G>A
NM_138924.2:c.616G>A	NP_620279.1:p.Gly206Arg
NM_000156.6:c.570+46G>A MANE Select	NP_000147.1:n.570+46G>A
NM_138924.3:c.616G>A	NP_620279.1:p.Gly206Arg