Canonical Allele Identifier: CA504895199

Gene: GAMT

Linked Data

• MyVariant Identifiers: chr19:g.1399014A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1399015A>G , CM000681.2:g.1399015A>G	GRCh38
NC_000019.9:g.1399014A>G , CM000681.1:g.1399014A>G	GRCh37
NC_000019.8:g.1350014A>G	NCBI36
NG_009785.1:g.7539T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000252288.8:c.471T>C MANE Select	ENSP00000252288.1:p.Phe157=
ENST00000447102.8:c.471T>C	ENSP00000403536.2:p.Phe157=
ENST00000591788.3:c.154T>C
ENST00000640164.1:n.304T>C
ENST00000640762.1:c.402T>C	ENSP00000492031.1:p.Phe134=
ENST00000252288.6:c.471T>C	ENSP00000252288.1:p.Phe157=
ENST00000447102.7:c.471T>C	ENSP00000403536.2:p.Phe157=
ENST00000591788.2:c.156T>C	ENSP00000466341.2:p.Phe52=
NM_000156.5:c.471T>C	NP_000147.1:p.Phe157=
NM_138924.2:c.471T>C	NP_620279.1:p.Phe157=
NM_000156.6:c.471T>C MANE Select	NP_000147.1:p.Phe157=
NM_138924.3:c.471T>C	NP_620279.1:p.Phe157=