Canonical Allele Identifier: CA1640421501

Gene: PHIP

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.79042950C= , CM000668.2:g.79042950C=	GRCh38
NC_000006.11:g.79752667C= , CM000668.1:g.79752667C=	GRCh37
NC_000006.10:g.79809386C=	NCBI36
NG_051932.1:g.40349G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700012.1:c.511G=	ENSP00000514753.1:p.Val171=
ENST00000700013.1:c.511G=	ENSP00000514754.1:p.Val171=
ENST00000700114.1:c.433G=	ENSP00000514808.1:p.Val145=
ENST00000700115.1:c.493G=	ENSP00000514809.1:p.Val165=
ENST00000700118.1:c.493G=	ENSP00000514810.1:p.Val165=
ENST00000700119.1:c.*304G=	ENSP00000514811.1:n.*304G=
ENST00000700120.1:n.421G=
ENST00000275034.5:c.493G= MANE Select	ENSP00000275034.3:p.Val165=
ENST00000275034.4:c.493G=	ENSP00000275034.3:p.Val165=
NM_017934.5:c.493G=	NP_060404.3:p.Val165=
XM_005248729.3:c.493G=	XP_005248786.1:p.Val165=
XM_011535917.1:c.493G=	XP_011534219.1:p.Val165=
XM_011535918.1:c.-24G=	XP_011534220.1:n.-24G=
XM_011535919.1:c.493G=	XP_011534221.1:p.Val165=
XR_942499.1:n.719G=
NM_017934.6:c.493G=	NP_060404.4:p.Val165=
XM_005248729.5:c.493G=	XP_005248786.1:p.Val165=
XM_011535918.3:c.-24G=	XP_011534220.1:n.-24G=
XM_017010989.2:c.-1237G=	XP_016866478.1:n.-1237G=
XM_017010990.2:c.-1237G=	XP_016866479.1:n.-1237G=
NM_017934.7:c.493G= MANE Select	NP_060404.4:p.Val165=