Canonical Allele Identifier: CA2268261841
Community Standard Title: NM_016077.5(PTRH2):c.254A= (p.Gln85=)
Gene: PTRH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.59697725T= , CM000679.2:g.59697725T= GRCh38
NC_000017.10:g.57775086T= , CM000679.1:g.57775086T= GRCh37
NC_000017.9:g.55129868T= NCBI36
NG_042064.1:g.14874A=
NG_047043.1:g.83037T=

Transcript Alleles

HGVS Amino-acid Change
NM_016077.5:c.254A= MANE Select NP_057161.1:p.Gln85=
ENST00000393038.3:c.254A= MANE Select ENSP00000376758.2:p.Gln85=
NM_001015509.2:c.257A= NP_001015509.1:p.Gln86=
NM_001015509.3:c.257A= NP_001015509.1:p.Gln86=
NM_016077.3:c.254A= NP_057161.1:p.Gln85=
NM_016077.4:c.254A= NP_057161.1:p.Gln85=
ENST00000393038.2:c.254A= ENSP00000376758.2:p.Gln85=
ENST00000409433.2:c.257A= ENSP00000387180.2:p.Gln86=
ENST00000470557.2:c.254A= ENSP00000464327.1:p.Gln85=
ENST00000587935.1:n.45+9646A=
XM_011524887.1:c.254A= XP_011523189.1:p.Gln85=
XM_011524887.2:c.254A= XP_011523189.1:p.Gln85=