Canonical Allele Identifier: CA504731610

Gene: GAMT

Linked Data

• ClinVar Variation Id: 1104743
• ClinVar RCV Id: RCV001428889
• dbSNP Id: rs2082632327
• gnomAD v4: 19-1401315-G-A
• MyVariant Identifiers: chr19:g.1401314G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1401315G>A , CM000681.2:g.1401315G>A	GRCh38
NC_000019.9:g.1401314G>A , CM000681.1:g.1401314G>A	GRCh37
NC_000019.8:g.1352314G>A	NCBI36
NG_009785.1:g.5239C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000252288.8:c.162C>T MANE Select	ENSP00000252288.1:p.Ala54=
ENST00000447102.8:c.162C>T	ENSP00000403536.2:p.Ala54=
ENST00000640762.1:c.112+50C>T	ENSP00000492031.1:n.112+50C>T
ENST00000252288.6:c.162C>T	ENSP00000252288.1:p.Ala54=
ENST00000447102.7:c.162C>T	ENSP00000403536.2:p.Ala54=
NM_000156.5:c.162C>T	NP_000147.1:p.Ala54=
NM_138924.2:c.162C>T	NP_620279.1:p.Ala54=
NM_000156.6:c.162C>T MANE Select	NP_000147.1:p.Ala54=
NM_138924.3:c.162C>T	NP_620279.1:p.Ala54=