Canonical Allele Identifier: CA400429260

Gene: PTRH2

Linked Data

• MyVariant Identifiers: chr17:g.57774999G>A (hg19) ; chr17:g.59697638G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.59697638G>A , CM000679.2:g.59697638G>A	GRCh38
NC_000017.10:g.57774999G>A , CM000679.1:g.57774999G>A	GRCh37
NC_000017.9:g.55129781G>A	NCBI36
NG_042064.1:g.14961C>T
NG_047043.1:g.82950G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393038.3:c.341C>T MANE Select	ENSP00000376758.2:p.Pro114Leu
ENST00000393038.2:c.341C>T	ENSP00000376758.2:p.Pro114Leu
ENST00000409433.2:c.344C>T	ENSP00000387180.2:p.Pro115Leu
ENST00000470557.2:c.341C>T	ENSP00000464327.1:p.Pro114Leu
ENST00000587935.1:n.45+9733C>T
NM_001015509.2:c.344C>T	NP_001015509.1:p.Pro115Leu
NM_016077.3:c.341C>T	NP_057161.1:p.Pro114Leu
NM_016077.4:c.341C>T	NP_057161.1:p.Pro114Leu
XM_011524887.1:c.341C>T	XP_011523189.1:p.Pro114Leu
XM_011524887.2:c.341C>T	XP_011523189.1:p.Pro114Leu
NM_016077.5:c.341C>T MANE Select	NP_057161.1:p.Pro114Leu
NM_001015509.3:c.344C>T	NP_001015509.1:p.Pro115Leu