Canonical Allele Identifier: CA783507837

Gene: GAMT

Linked Data

• dbSNP Id: rs1417212097
• gnomAD v3: 19-1401515-C-T
• gnomAD v4: 19-1401515-C-T
• MyVariant Identifiers: chr19:g.1401514C>T (hg19) ; chr19:g.1401515C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1401515C>T , CM000681.2:g.1401515C>T	GRCh38
NC_000019.9:g.1401514C>T , CM000681.1:g.1401514C>T	GRCh37
NC_000019.8:g.1352514C>T	NCBI36
NG_009785.1:g.5039G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252288.8:c.-39G>A MANE Select	ENSP00000252288.1:n.-39G>A
ENST00000447102.8:c.-39G>A	ENSP00000403536.2:n.-39G>A
ENST00000252288.6:c.-39G>A	ENSP00000252288.1:n.-39G>A
ENST00000447102.7:c.-39G>A	ENSP00000403536.2:n.-39G>A
NM_000156.5:c.-39G>A	NP_000147.1:n.-39G>A
NM_138924.2:c.-39G>A	NP_620279.1:n.-39G>A
NM_000156.6:c.-39G>A MANE Select	NP_000147.1:n.-39G>A
NM_138924.3:c.-39G>A	NP_620279.1:n.-39G>A