Canonical Allele Identifier: CA364643114

Gene: PHIP

Linked Data

• gnomAD v4: 6-79042910-C-T
• MyVariant Identifiers: chr6:g.79752627C>T (hg19) ; chr6:g.79042910C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.79042910C>T , CM000668.2:g.79042910C>T	GRCh38
NC_000006.11:g.79752627C>T , CM000668.1:g.79752627C>T	GRCh37
NC_000006.10:g.79809346C>T	NCBI36
NG_051932.1:g.40389G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000700012.1:c.551G>A	ENSP00000514753.1:p.Arg184Gln
ENST00000700013.1:c.551G>A	ENSP00000514754.1:p.Arg184Gln
ENST00000700114.1:c.473G>A	ENSP00000514808.1:p.Arg158Gln
ENST00000700115.1:c.533G>A	ENSP00000514809.1:p.Arg178Gln
ENST00000700118.1:c.533G>A	ENSP00000514810.1:p.Arg178Gln
ENST00000700119.1:c.*344G>A	ENSP00000514811.1:n.*344G>A
ENST00000700120.1:n.461G>A
ENST00000275034.5:c.533G>A MANE Select	ENSP00000275034.3:p.Arg178Gln
ENST00000275034.4:c.533G>A	ENSP00000275034.3:p.Arg178Gln
NM_017934.5:c.533G>A	NP_060404.3:p.Arg178Gln
XM_005248729.3:c.533G>A	XP_005248786.1:p.Arg178Gln
XM_011535917.1:c.533G>A	XP_011534219.1:p.Arg178Gln
XM_011535918.1:c.17G>A	XP_011534220.1:p.Arg6Gln
XM_011535919.1:c.533G>A	XP_011534221.1:p.Arg178Gln
XR_942499.1:n.759G>A
NM_017934.6:c.533G>A	NP_060404.4:p.Arg178Gln
XM_005248729.5:c.533G>A	XP_005248786.1:p.Arg178Gln
XM_011535918.3:c.17G>A	XP_011534220.1:p.Arg6Gln
XM_017010989.2:c.-1197G>A	XP_016866478.1:n.-1197G>A
XM_017010990.2:c.-1197G>A	XP_016866479.1:n.-1197G>A
NM_017934.7:c.533G>A MANE Select	NP_060404.4:p.Arg178Gln