Canonical Allele Identifier: CA658798912

Gene: PTRH2 VMP1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.59707395G>A , CM000679.2:g.59707395G>A	GRCh38
NC_000017.10:g.57784756G>A , CM000679.1:g.57784756G>A	GRCh37
NC_000017.9:g.55139538G>A	NCBI36
NG_042064.1:g.5204C>T
NG_051107.1:g.4931G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_016077.5:c.-25C>T (PTRH2) MANE Select	NP_057161.1:n.-25C>T
ENST00000393038.3:c.-25C>T (PTRH2) MANE Select	ENSP00000376758.2:n.-25C>T
NM_001015509.2:c.-1341C>T (PTRH2)	NP_001015509.1:n.-1341C>T
NM_001015509.3:c.-1341C>T (PTRH2)	NP_001015509.1:n.-1341C>T
NM_016077.3:c.-25C>T (PTRH2)	NP_057161.1:n.-25C>T
NM_016077.4:c.-25C>T (PTRH2)	NP_057161.1:n.-25C>T
ENST00000393038.2:c.-25C>T (PTRH2)	ENSP00000376758.2:n.-25C>T
ENST00000409433.2:c.-1341C>T (PTRH2)	ENSP00000387180.2:n.-1341C>T
ENST00000579915.1:n.46C>T (PTRH2)
ENST00000587935.1:n.21C>T (PTRH2)
ENST00000588915.1:n.81+123G>A (VMP1)
XM_011524887.1:c.-16C>T (PTRH2)	XP_011523189.1:n.-16C>T
XM_011524887.2:c.-16C>T (PTRH2)	XP_011523189.1:n.-16C>T