Canonical Allele Identifier: CA402992790

Gene: GAMT

Linked Data

• dbSNP Id: rs1386891101
• gnomAD v2: 19-1398779-G-A
• gnomAD v4: 19-1398780-G-A
• MyVariant Identifiers: chr19:g.1398779G>A (hg19) ; chr19:g.1398780G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1398780G>A , CM000681.2:g.1398780G>A	GRCh38
NC_000019.9:g.1398779G>A , CM000681.1:g.1398779G>A	GRCh37
NC_000019.8:g.1349779G>A	NCBI36
NG_009785.1:g.7774C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000252288.8:c.570+136C>T MANE Select	ENSP00000252288.1:n.570+136C>T
ENST00000447102.8:c.706C>T	ENSP00000403536.2:p.His236Tyr
ENST00000591788.3:c.254-33C>T
ENST00000640164.1:n.403+136C>T
ENST00000640762.1:c.501+136C>T	ENSP00000492031.1:n.501+136C>T
ENST00000252288.6:c.570+136C>T	ENSP00000252288.1:n.570+136C>T
ENST00000447102.7:c.706C>T	ENSP00000403536.2:p.His236Tyr
ENST00000591788.2:c.256-33C>T	ENSP00000466341.2:n.256-33C>T
NM_000156.5:c.570+136C>T	NP_000147.1:n.570+136C>T
NM_138924.2:c.706C>T	NP_620279.1:p.His236Tyr
NM_000156.6:c.570+136C>T MANE Select	NP_000147.1:n.570+136C>T
NM_138924.3:c.706C>T	NP_620279.1:p.His236Tyr