Canonical Allele Identifier: CA402993541

Gene: GAMT

Linked Data

• dbSNP Id: rs1387969669
• gnomAD v2: 19-1398865-C-A
• gnomAD v4: 19-1398866-C-A
• MyVariant Identifiers: chr19:g.1398865C>A (hg19) ; chr19:g.1398866C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1398866C>A , CM000681.2:g.1398866C>A	GRCh38
NC_000019.9:g.1398865C>A , CM000681.1:g.1398865C>A	GRCh37
NC_000019.8:g.1349865C>A	NCBI36
NG_009785.1:g.7688G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000252288.8:c.570+50G>T MANE Select	ENSP00000252288.1:n.570+50G>T
ENST00000447102.8:c.620G>T	ENSP00000403536.2:p.Trp207Leu
ENST00000591788.3:c.253+50G>T
ENST00000640164.1:n.403+50G>T
ENST00000640762.1:c.501+50G>T	ENSP00000492031.1:n.501+50G>T
ENST00000252288.6:c.570+50G>T	ENSP00000252288.1:n.570+50G>T
ENST00000447102.7:c.620G>T	ENSP00000403536.2:p.Trp207Leu
ENST00000591788.2:c.255+50G>T	ENSP00000466341.2:n.255+50G>T
NM_000156.5:c.570+50G>T	NP_000147.1:n.570+50G>T
NM_138924.2:c.620G>T	NP_620279.1:p.Trp207Leu
NM_000156.6:c.570+50G>T MANE Select	NP_000147.1:n.570+50G>T
NM_138924.3:c.620G>T	NP_620279.1:p.Trp207Leu