Canonical Allele Identifier: CA9043665

Gene: GAMT

Linked Data

• dbSNP Id: rs776155730
• ExAC: 19:1399166 C / T
• gnomAD v2: 19-1399166-C-T
• gnomAD v3: 19-1399167-C-T
• gnomAD v4: 19-1399167-C-T
• MyVariant Identifiers: chr19:g.1399166C>T (hg19) ; chr19:g.1399167C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1399167C>T , CM000681.2:g.1399167C>T	GRCh38
NC_000019.9:g.1399166C>T , CM000681.1:g.1399166C>T	GRCh37
NC_000019.8:g.1350166C>T	NCBI36
NG_009785.1:g.7387G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252288.8:c.420G>A MANE Select	ENSP00000252288.1:p.Ser140=
ENST00000447102.8:c.420G>A	ENSP00000403536.2:p.Ser140=
ENST00000591788.3:c.103G>A
ENST00000640164.1:n.253G>A
ENST00000640762.1:c.351G>A	ENSP00000492031.1:p.Ser117=
ENST00000252288.6:c.420G>A	ENSP00000252288.1:p.Ser140=
ENST00000447102.7:c.420G>A	ENSP00000403536.2:p.Ser140=
ENST00000591788.2:c.105G>A	ENSP00000466341.2:p.Ser35=
NM_000156.5:c.420G>A	NP_000147.1:p.Ser140=
NM_138924.2:c.420G>A	NP_620279.1:p.Ser140=
NM_000156.6:c.420G>A MANE Select	NP_000147.1:p.Ser140=
NM_138924.3:c.420G>A	NP_620279.1:p.Ser140=