Canonical Allele Identifier: CA402995100

Gene: GAMT

Linked Data

• MyVariant Identifiers: chr19:g.1399149G>A (hg19) ; chr19:g.1399150G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1399150G>A , CM000681.2:g.1399150G>A	GRCh38
NC_000019.9:g.1399149G>A , CM000681.1:g.1399149G>A	GRCh37
NC_000019.8:g.1350149G>A	NCBI36
NG_009785.1:g.7404C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252288.8:c.437C>T MANE Select	ENSP00000252288.1:p.Thr146Ile
ENST00000447102.8:c.437C>T	ENSP00000403536.2:p.Thr146Ile
ENST00000591788.3:c.120C>T
ENST00000640164.1:n.270C>T
ENST00000640762.1:c.368C>T	ENSP00000492031.1:p.Thr123Ile
ENST00000252288.6:c.437C>T	ENSP00000252288.1:p.Thr146Ile
ENST00000447102.7:c.437C>T	ENSP00000403536.2:p.Thr146Ile
ENST00000591788.2:c.122C>T	ENSP00000466341.2:p.Thr41Ile
NM_000156.5:c.437C>T	NP_000147.1:p.Thr146Ile
NM_138924.2:c.437C>T	NP_620279.1:p.Thr146Ile
NM_000156.6:c.437C>T MANE Select	NP_000147.1:p.Thr146Ile
NM_138924.3:c.437C>T	NP_620279.1:p.Thr146Ile