Canonical Allele Identifier: CA9043619

Gene: GAMT

Linked Data

• ClinVar Variation Id: 801414
• ClinVar RCV Id: RCV000986197 ; RCV001827125 ; RCV001386710
• dbSNP Id: rs200444143
• ExAC: 19:1398964 C / T
• gnomAD v2: 19-1398964-C-T
• gnomAD v3: 19-1398965-C-T
• gnomAD v4: 19-1398965-C-T
• MyVariant Identifiers: chr19:g.1398964C>T (hg19) ; chr19:g.1398965C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1398965C>T , CM000681.2:g.1398965C>T	GRCh38
NC_000019.9:g.1398964C>T , CM000681.1:g.1398964C>T	GRCh37
NC_000019.8:g.1349964C>T	NCBI36
NG_009785.1:g.7589G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252288.8:c.521G>A MANE Select	ENSP00000252288.1:p.Trp174Ter
ENST00000447102.8:c.521G>A	ENSP00000403536.2:p.Trp174Ter
ENST00000591788.3:c.204G>A
ENST00000640164.1:n.354G>A
ENST00000640762.1:c.452G>A	ENSP00000492031.1:p.Trp151Ter
ENST00000252288.6:c.521G>A	ENSP00000252288.1:p.Trp174Ter
ENST00000447102.7:c.521G>A	ENSP00000403536.2:p.Trp174Ter
ENST00000591788.2:c.206G>A	ENSP00000466341.2:p.Trp69Ter
NM_000156.5:c.521G>A	NP_000147.1:p.Trp174Ter
NM_138924.2:c.521G>A	NP_620279.1:p.Trp174Ter
NM_000156.6:c.521G>A MANE Select	NP_000147.1:p.Trp174Ter
NM_138924.3:c.521G>A	NP_620279.1:p.Trp174Ter