Canonical Allele Identifier: CA501331409

Gene: PTRH2

Linked Data

• MyVariant Identifiers: chr17:g.57774955A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.59697594A>G , CM000679.2:g.59697594A>G	GRCh38
NC_000017.10:g.57774955A>G , CM000679.1:g.57774955A>G	GRCh37
NC_000017.9:g.55129737A>G	NCBI36
NG_042064.1:g.15005T>C
NG_047043.1:g.82906A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393038.3:c.385T>C MANE Select	ENSP00000376758.2:p.Leu129=
ENST00000393038.2:c.385T>C	ENSP00000376758.2:p.Leu129=
ENST00000409433.2:c.388T>C	ENSP00000387180.2:p.Leu130=
ENST00000470557.2:c.385T>C	ENSP00000464327.1:p.Leu129=
ENST00000587935.1:n.45+9777T>C
NM_001015509.2:c.388T>C	NP_001015509.1:p.Leu130=
NM_016077.3:c.385T>C	NP_057161.1:p.Leu129=
NM_016077.4:c.385T>C	NP_057161.1:p.Leu129=
XM_011524887.1:c.385T>C	XP_011523189.1:p.Leu129=
XM_011524887.2:c.385T>C	XP_011523189.1:p.Leu129=
NM_016077.5:c.385T>C MANE Select	NP_057161.1:p.Leu129=
NM_001015509.3:c.388T>C	NP_001015509.1:p.Leu130=