Canonical Allele Identifier: CA504730120

Gene: GAMT

Linked Data

• gnomAD v4: 19-1399179-C-A
• MyVariant Identifiers: chr19:g.1399178C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1399179C>A , CM000681.2:g.1399179C>A	GRCh38
NC_000019.9:g.1399178C>A , CM000681.1:g.1399178C>A	GRCh37
NC_000019.8:g.1350178C>A	NCBI36
NG_009785.1:g.7375G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252288.8:c.408G>T MANE Select	ENSP00000252288.1:p.Thr136=
ENST00000447102.8:c.408G>T	ENSP00000403536.2:p.Thr136=
ENST00000591788.3:c.91G>T
ENST00000640164.1:n.241G>T
ENST00000640762.1:c.339G>T	ENSP00000492031.1:p.Thr113=
ENST00000252288.6:c.408G>T	ENSP00000252288.1:p.Thr136=
ENST00000447102.7:c.408G>T	ENSP00000403536.2:p.Thr136=
ENST00000591788.2:c.93G>T	ENSP00000466341.2:p.Thr31=
NM_000156.5:c.408G>T	NP_000147.1:p.Thr136=
NM_138924.2:c.408G>T	NP_620279.1:p.Thr136=
NM_000156.6:c.408G>T MANE Select	NP_000147.1:p.Thr136=
NM_138924.3:c.408G>T	NP_620279.1:p.Thr136=