Canonical Allele Identifier: CA6277207

Gene: PIH1D2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112071113T>G , CM000673.2:g.112071113T>G	GRCh38
NC_000011.9:g.111941837T>G , CM000673.1:g.111941837T>G	GRCh37
NC_000011.8:g.111447047T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_138789.4:c.472A>C MANE Select	NP_620144.1:p.Ser158Arg
ENST00000280350.10:c.472A>C MANE Select	ENSP00000280350.4:p.Ser158Arg
NM_001082619.1:c.472A>C	NP_001076088.1:p.Ser158Arg
NM_001082619.2:c.472A>C	NP_001076088.1:p.Ser158Arg
NM_138789.3:c.472A>C	NP_620144.1:p.Ser158Arg
ENST00000280350.8:c.472A>C	ENSP00000280350.4:p.Ser158Arg
ENST00000431456.5:c.472A>C	ENSP00000388209.1:p.Ser158Arg
ENST00000431456.6:c.472A>C	ENSP00000388209.1:p.Ser158Arg
ENST00000525072.5:c.338A>C
ENST00000525744.1:c.367A>C	ENSP00000433297.1:p.Ser123Arg
ENST00000528775.5:c.472A>C	ENSP00000434275.1:p.Ser158Arg
ENST00000528775.6:c.472A>C	ENSP00000434275.1:p.Ser158Arg
ENST00000530641.5:c.472A>C	ENSP00000431147.1:p.Ser158Arg
ENST00000532211.5:c.472A>C	ENSP00000431841.1:p.Ser158Arg
ENST00000676994.1:c.472A>C	ENSP00000503801.1:p.Ser158Arg
XM_011542590.1:c.472A>C	XP_011540892.1:p.Ser158Arg
XM_011542591.1:c.472A>C	XP_011540893.1:p.Ser158Arg
XM_011542592.1:c.472A>C	XP_011540894.1:p.Ser158Arg
XM_011542593.1:c.472A>C	XP_011540895.1:p.Ser158Arg
XM_017017201.2:c.472A>C	XP_016872690.1:p.Ser158Arg
XM_017017202.2:c.472A>C	XP_016872691.1:p.Ser158Arg
XM_017017203.2:c.472A>C	XP_016872692.1:p.Ser158Arg
XM_017017204.2:c.472A>C	XP_016872693.1:p.Ser158Arg
XM_017017205.2:c.472A>C	XP_016872694.1:p.Ser158Arg
XM_024448349.1:c.472A>C	XP_024304117.1:p.Ser158Arg
XM_024448350.1:c.472A>C	XP_024304118.1:p.Ser158Arg
XR_947792.1:n.592A>C