Canonical Allele Identifier: CA1640438018

Gene: PHIP

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.79077904A= , CM000668.2:g.79077904A=	GRCh38
NC_000006.11:g.79787621A= , CM000668.1:g.79787621A=	GRCh37
NC_000006.10:g.79844340A=	NCBI36
NG_051932.1:g.5395T=

Transcript Alleles

HGVS	Amino-acid Change
NM_017934.7:c.50T= MANE Select	NP_060404.4:p.Phe17=
ENST00000275034.5:c.50T= MANE Select	ENSP00000275034.3:p.Phe17=
NM_017934.5:c.50T=	NP_060404.3:p.Phe17=
NM_017934.6:c.50T=	NP_060404.4:p.Phe17=
ENST00000275034.4:c.50T=	ENSP00000275034.3:p.Phe17=
ENST00000700012.1:c.50T=	ENSP00000514753.1:p.Phe17=
ENST00000700013.1:c.50T=	ENSP00000514754.1:p.Phe17=
ENST00000700114.1:c.50T=	ENSP00000514808.1:p.Phe17=
ENST00000700115.1:c.50T=	ENSP00000514809.1:p.Phe17=
ENST00000700118.1:c.50T=	ENSP00000514810.1:p.Phe17=
ENST00000700119.1:c.50T=	ENSP00000514811.1:p.Phe17=
ENST00000700121.1:n.206T=
XM_005248729.3:c.50T=	XP_005248786.1:p.Phe17=
XM_005248729.5:c.50T=	XP_005248786.1:p.Phe17=
XM_011535917.1:c.50T=	XP_011534219.1:p.Phe17=
XM_011535919.1:c.50T=	XP_011534221.1:p.Phe17=
XM_017010989.2:c.-1770T=	XP_016866478.1:n.-1770T=
XR_942499.1:n.276T=