Canonical Allele Identifier: CA400429098

Gene: PTRH2

Linked Data

• MyVariant Identifiers: chr17:g.57774963A>T (hg19) ; chr17:g.59697602A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.59697602A>T , CM000679.2:g.59697602A>T	GRCh38
NC_000017.10:g.57774963A>T , CM000679.1:g.57774963A>T	GRCh37
NC_000017.9:g.55129745A>T	NCBI36
NG_042064.1:g.14997T>A
NG_047043.1:g.82914A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393038.3:c.377T>A MANE Select	ENSP00000376758.2:p.Leu126Gln
ENST00000393038.2:c.377T>A	ENSP00000376758.2:p.Leu126Gln
ENST00000409433.2:c.380T>A	ENSP00000387180.2:p.Leu127Gln
ENST00000470557.2:c.377T>A	ENSP00000464327.1:p.Leu126Gln
ENST00000587935.1:n.45+9769T>A
NM_001015509.2:c.380T>A	NP_001015509.1:p.Leu127Gln
NM_016077.3:c.377T>A	NP_057161.1:p.Leu126Gln
NM_016077.4:c.377T>A	NP_057161.1:p.Leu126Gln
XM_011524887.1:c.377T>A	XP_011523189.1:p.Leu126Gln
XM_011524887.2:c.377T>A	XP_011523189.1:p.Leu126Gln
NM_016077.5:c.377T>A MANE Select	NP_057161.1:p.Leu126Gln
NM_001015509.3:c.380T>A	NP_001015509.1:p.Leu127Gln