Canonical Allele Identifier: CA3900362

Gene: PHIP

Linked Data

• dbSNP Id: rs774110962
• ExAC: 6:79752714 G / T
• gnomAD v2: 6-79752714-G-T
• gnomAD v4: 6-79042997-G-T
• MyVariant Identifiers: chr6:g.79752714G>T (hg19) ; chr6:g.79042997G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.79042997G>T , CM000668.2:g.79042997G>T	GRCh38
NC_000006.11:g.79752714G>T , CM000668.1:g.79752714G>T	GRCh37
NC_000006.10:g.79809433G>T	NCBI36
NG_051932.1:g.40302C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700012.1:c.464C>A	ENSP00000514753.1:p.Thr155Asn
ENST00000700013.1:c.464C>A	ENSP00000514754.1:p.Thr155Asn
ENST00000700114.1:c.386C>A	ENSP00000514808.1:p.Thr129Asn
ENST00000700115.1:c.446C>A	ENSP00000514809.1:p.Thr149Asn
ENST00000700118.1:c.446C>A	ENSP00000514810.1:p.Thr149Asn
ENST00000700119.1:c.*257C>A	ENSP00000514811.1:n.*257C>A
ENST00000700120.1:n.374C>A
ENST00000275034.5:c.446C>A MANE Select	ENSP00000275034.3:p.Thr149Asn
ENST00000275034.4:c.446C>A	ENSP00000275034.3:p.Thr149Asn
NM_017934.5:c.446C>A	NP_060404.3:p.Thr149Asn
XM_005248729.3:c.446C>A	XP_005248786.1:p.Thr149Asn
XM_011535917.1:c.446C>A	XP_011534219.1:p.Thr149Asn
XM_011535918.1:c.-71C>A	XP_011534220.1:n.-71C>A
XM_011535919.1:c.446C>A	XP_011534221.1:p.Thr149Asn
XR_942499.1:n.672C>A
NM_017934.6:c.446C>A	NP_060404.4:p.Thr149Asn
XM_005248729.5:c.446C>A	XP_005248786.1:p.Thr149Asn
XM_011535918.3:c.-71C>A	XP_011534220.1:n.-71C>A
XM_017010989.2:c.-1284C>A	XP_016866478.1:n.-1284C>A
XM_017010990.2:c.-1284C>A	XP_016866479.1:n.-1284C>A
NM_017934.7:c.446C>A MANE Select	NP_060404.4:p.Thr149Asn