Canonical Allele Identifier: CA9043618
Gene: GAMT HGNC NCBI

Linked Data

ClinVar Variation Id: 966083
ClinVar RCV Id: RCV001240673 RCV001828958
dbSNP Id: rs200444143
ExAC: 19:1398964 C / A
gnomAD v2: 19-1398964-C-A
gnomAD v3: 19-1398965-C-A
gnomAD v4: 19-1398965-C-A
MyVariant Identifiers: chr19:g.1398964C>A (hg19) chr19:g.1398965C>A (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.521G>T MANE Select ENSP00000252288.1:p.Trp174Leu
ENST00000447102.8:c.521G>T ENSP00000403536.2:p.Trp174Leu
ENST00000591788.3:c.204G>T
ENST00000640164.1:n.354G>T
ENST00000640762.1:c.452G>T ENSP00000492031.1:p.Trp151Leu
ENST00000252288.6:c.521G>T ENSP00000252288.1:p.Trp174Leu
ENST00000447102.7:c.521G>T ENSP00000403536.2:p.Trp174Leu
ENST00000591788.2:c.206G>T ENSP00000466341.2:p.Trp69Leu
NM_000156.5:c.521G>T NP_000147.1:p.Trp174Leu
NM_138924.2:c.521G>T NP_620279.1:p.Trp174Leu
NM_000156.6:c.521G>T MANE Select NP_000147.1:p.Trp174Leu
NM_138924.3:c.521G>T NP_620279.1:p.Trp174Leu
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