Canonical Allele Identifier: CA2578676241

Gene: PHIP

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.79025508T>G , CM000668.2:g.79025508T>G	GRCh38
NC_000006.11:g.79735225T>G , CM000668.1:g.79735225T>G	GRCh37
NC_000006.10:g.79791944T>G	NCBI36
NG_051932.1:g.57791A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000700012.1:c.941+11A>C	ENSP00000514753.1:n.941+11A>C
ENST00000700013.1:c.941+11A>C	ENSP00000514754.1:n.941+11A>C
ENST00000700114.1:c.863+11A>C	ENSP00000514808.1:n.863+11A>C
ENST00000700115.1:c.923+11A>C	ENSP00000514809.1:n.923+11A>C
ENST00000700118.1:c.923+11A>C	ENSP00000514810.1:n.923+11A>C
ENST00000700119.1:c.*734+11A>C	ENSP00000514811.1:n.*734+11A>C
ENST00000275034.5:c.923+11A>C MANE Select	ENSP00000275034.3:n.923+11A>C
ENST00000275034.4:c.923+11A>C	ENSP00000275034.3:n.923+11A>C
NM_017934.5:c.923+11A>C	NP_060404.3:n.923+11A>C
XM_005248729.3:c.923+11A>C	XP_005248786.1:n.923+11A>C
XM_011535917.1:c.923+11A>C	XP_011534219.1:n.923+11A>C
XM_011535918.1:c.407+11A>C	XP_011534220.1:n.407+11A>C
XM_011535919.1:c.923+11A>C	XP_011534221.1:n.923+11A>C
XR_942499.1:n.1149+11A>C
NM_017934.6:c.923+11A>C	NP_060404.4:n.923+11A>C
XM_005248729.5:c.923+11A>C	XP_005248786.1:n.923+11A>C
XM_011535918.3:c.407+11A>C	XP_011534220.1:n.407+11A>C
XM_017010989.2:c.-807+11A>C	XP_016866478.1:n.-807+11A>C
XM_017010990.2:c.-807+11A>C	XP_016866479.1:n.-807+11A>C
NM_017934.7:c.923+11A>C MANE Select	NP_060404.4:n.923+11A>C