Canonical Allele Identifier: CA501331430

Gene: PTRH2

Linked Data

• MyVariant Identifiers: chr17:g.57774971T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.59697610T>C , CM000679.2:g.59697610T>C	GRCh38
NC_000017.10:g.57774971T>C , CM000679.1:g.57774971T>C	GRCh37
NC_000017.9:g.55129753T>C	NCBI36
NG_042064.1:g.14989A>G
NG_047043.1:g.82922T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393038.3:c.369A>G MANE Select	ENSP00000376758.2:p.Glu123=
ENST00000393038.2:c.369A>G	ENSP00000376758.2:p.Glu123=
ENST00000409433.2:c.372A>G	ENSP00000387180.2:p.Glu124=
ENST00000470557.2:c.369A>G	ENSP00000464327.1:p.Glu123=
ENST00000587935.1:n.45+9761A>G
NM_001015509.2:c.372A>G	NP_001015509.1:p.Glu124=
NM_016077.3:c.369A>G	NP_057161.1:p.Glu123=
NM_016077.4:c.369A>G	NP_057161.1:p.Glu123=
XM_011524887.1:c.369A>G	XP_011523189.1:p.Glu123=
XM_011524887.2:c.369A>G	XP_011523189.1:p.Glu123=
NM_016077.5:c.369A>G MANE Select	NP_057161.1:p.Glu123=
NM_001015509.3:c.372A>G	NP_001015509.1:p.Glu124=