Canonical Allele Identifier: CA504895179

Gene: GAMT

Linked Data

• dbSNP Id: rs1379169020
• gnomAD v2: 19-1399005-C-T
• gnomAD v4: 19-1399006-C-T
• MyVariant Identifiers: chr19:g.1399005C>T (hg19) ; chr19:g.1399006C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1399006C>T , CM000681.2:g.1399006C>T	GRCh38
NC_000019.9:g.1399005C>T , CM000681.1:g.1399005C>T	GRCh37
NC_000019.8:g.1350005C>T	NCBI36
NG_009785.1:g.7548G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000252288.8:c.480G>A MANE Select	ENSP00000252288.1:p.Leu160=
ENST00000447102.8:c.480G>A	ENSP00000403536.2:p.Leu160=
ENST00000591788.3:c.163G>A
ENST00000640164.1:n.313G>A
ENST00000640762.1:c.411G>A	ENSP00000492031.1:p.Leu137=
ENST00000252288.6:c.480G>A	ENSP00000252288.1:p.Leu160=
ENST00000447102.7:c.480G>A	ENSP00000403536.2:p.Leu160=
ENST00000591788.2:c.165G>A	ENSP00000466341.2:p.Leu55=
NM_000156.5:c.480G>A	NP_000147.1:p.Leu160=
NM_138924.2:c.480G>A	NP_620279.1:p.Leu160=
NM_000156.6:c.480G>A MANE Select	NP_000147.1:p.Leu160=
NM_138924.3:c.480G>A	NP_620279.1:p.Leu160=