Canonical Allele Identifier: CA292127021

Gene: PTRH2

Linked Data

• dbSNP Id: rs1001232841
• MyVariant Identifiers: chr17:g.57774944A>T (hg19) ; chr17:g.59697583A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.59697583A>T , CM000679.2:g.59697583A>T	GRCh38
NC_000017.10:g.57774944A>T , CM000679.1:g.57774944A>T	GRCh37
NC_000017.9:g.55129726A>T	NCBI36
NG_042064.1:g.15016T>A
NG_047043.1:g.82895A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393038.3:c.396T>A MANE Select	ENSP00000376758.2:p.His132Gln
ENST00000393038.2:c.396T>A	ENSP00000376758.2:p.His132Gln
ENST00000409433.2:c.399T>A	ENSP00000387180.2:p.His133Gln
ENST00000470557.2:c.396T>A	ENSP00000464327.1:p.His132Gln
ENST00000587935.1:n.45+9788T>A
NM_001015509.2:c.399T>A	NP_001015509.1:p.His133Gln
NM_016077.3:c.396T>A	NP_057161.1:p.His132Gln
NM_016077.4:c.396T>A	NP_057161.1:p.His132Gln
XM_011524887.1:c.396T>A	XP_011523189.1:p.His132Gln
XM_011524887.2:c.396T>A	XP_011523189.1:p.His132Gln
NM_016077.5:c.396T>A MANE Select	NP_057161.1:p.His132Gln
NM_001015509.3:c.399T>A	NP_001015509.1:p.His133Gln