Canonical Allele Identifier: CA504731609

Gene: GAMT

Linked Data

• ClinVar Variation Id: 1088989
• ClinVar RCV Id: RCV001407646
• dbSNP Id: rs2082632327
• gnomAD v4: 19-1401315-G-C
• MyVariant Identifiers: chr19:g.1401314G>C (hg19)

Genomic Alleles

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

Transcript Alleles

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