Canonical Allele Identifier: CA402994146

Gene: GAMT

Linked Data

• MyVariant Identifiers: chr19:g.1398935C>A (hg19) ; chr19:g.1398936C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1398936C>A , CM000681.2:g.1398936C>A	GRCh38
NC_000019.9:g.1398935C>A , CM000681.1:g.1398935C>A	GRCh37
NC_000019.8:g.1349935C>A	NCBI36
NG_009785.1:g.7618G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252288.8:c.550G>T MANE Select	ENSP00000252288.1:p.Asp184Tyr
ENST00000447102.8:c.550G>T	ENSP00000403536.2:p.Asp184Tyr
ENST00000591788.3:c.233G>T
ENST00000640164.1:n.383G>T
ENST00000640762.1:c.481G>T	ENSP00000492031.1:p.Asp161Tyr
ENST00000252288.6:c.550G>T	ENSP00000252288.1:p.Asp184Tyr
ENST00000447102.7:c.550G>T	ENSP00000403536.2:p.Asp184Tyr
ENST00000591788.2:c.235G>T	ENSP00000466341.2:p.Asp79Tyr
NM_000156.5:c.550G>T	NP_000147.1:p.Asp184Tyr
NM_138924.2:c.550G>T	NP_620279.1:p.Asp184Tyr
NM_000156.6:c.550G>T MANE Select	NP_000147.1:p.Asp184Tyr
NM_138924.3:c.550G>T	NP_620279.1:p.Asp184Tyr