Canonical Allele Identifier: CA2578676237

Gene: PHIP

Linked Data

• gnomAD v4: 6-79025489-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.79025489T>C , CM000668.2:g.79025489T>C	GRCh38
NC_000006.11:g.79735206T>C , CM000668.1:g.79735206T>C	GRCh37
NC_000006.10:g.79791925T>C	NCBI36
NG_051932.1:g.57810A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000700012.1:c.941+30A>G	ENSP00000514753.1:n.941+30A>G
ENST00000700013.1:c.941+30A>G	ENSP00000514754.1:n.941+30A>G
ENST00000700114.1:c.863+30A>G	ENSP00000514808.1:n.863+30A>G
ENST00000700115.1:c.923+30A>G	ENSP00000514809.1:n.923+30A>G
ENST00000700118.1:c.923+30A>G	ENSP00000514810.1:n.923+30A>G
ENST00000700119.1:c.*734+30A>G	ENSP00000514811.1:n.*734+30A>G
ENST00000275034.5:c.923+30A>G MANE Select	ENSP00000275034.3:n.923+30A>G
ENST00000275034.4:c.923+30A>G	ENSP00000275034.3:n.923+30A>G
NM_017934.5:c.923+30A>G	NP_060404.3:n.923+30A>G
XM_005248729.3:c.923+30A>G	XP_005248786.1:n.923+30A>G
XM_011535917.1:c.923+30A>G	XP_011534219.1:n.923+30A>G
XM_011535918.1:c.407+30A>G	XP_011534220.1:n.407+30A>G
XM_011535919.1:c.923+30A>G	XP_011534221.1:n.923+30A>G
XR_942499.1:n.1149+30A>G
NM_017934.6:c.923+30A>G	NP_060404.4:n.923+30A>G
XM_005248729.5:c.923+30A>G	XP_005248786.1:n.923+30A>G
XM_011535918.3:c.407+30A>G	XP_011534220.1:n.407+30A>G
XM_017010989.2:c.-807+30A>G	XP_016866478.1:n.-807+30A>G
XM_017010990.2:c.-807+30A>G	XP_016866479.1:n.-807+30A>G
NM_017934.7:c.923+30A>G MANE Select	NP_060404.4:n.923+30A>G