Canonical Allele Identifier: CA9043615
Gene: GAMT HGNC NCBI

Linked Data

ClinVar Variation Id: 706515
ClinVar RCV Id: RCV000877152 RCV002346034
dbSNP Id: rs750356640
ExAC: 19:1398956 G / A
gnomAD v2: 19-1398956-G-A
gnomAD v3: 19-1398957-G-A
gnomAD v4: 19-1398957-G-A
MyVariant Identifiers: chr19:g.1398956G>A (hg19) chr19:g.1398957G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1398957G>A , CM000681.2:g.1398957G>A GRCh38
NC_000019.9:g.1398956G>A , CM000681.1:g.1398956G>A GRCh37
NC_000019.8:g.1349956G>A NCBI36
NG_009785.1:g.7597C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.529C>T MANE Select ENSP00000252288.1:p.Leu177=
ENST00000447102.8:c.529C>T ENSP00000403536.2:p.Leu177=
ENST00000591788.3:c.212C>T
ENST00000640164.1:n.362C>T
ENST00000640762.1:c.460C>T ENSP00000492031.1:p.Leu154=
ENST00000252288.6:c.529C>T ENSP00000252288.1:p.Leu177=
ENST00000447102.7:c.529C>T ENSP00000403536.2:p.Leu177=
ENST00000591788.2:c.214C>T ENSP00000466341.2:p.Leu72=
NM_000156.5:c.529C>T NP_000147.1:p.Leu177=
NM_138924.2:c.529C>T NP_620279.1:p.Leu177=
NM_000156.6:c.529C>T MANE Select NP_000147.1:p.Leu177=
NM_138924.3:c.529C>T NP_620279.1:p.Leu177=
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