Canonical Allele Identifier: CA3900287

Gene: PHIP

Linked Data

• ClinVar Variation Id: 3023460
• ClinVar RCV Id: RCV003882646
• dbSNP Id: rs774075356
• ExAC: 6:79735304 A / G
• gnomAD v2: 6-79735304-A-G
• gnomAD v3: 6-79025587-A-G
• gnomAD v4: 6-79025587-A-G
• MyVariant Identifiers: chr6:g.79735304A>G (hg19) ; chr6:g.79025587A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.79025587A>G , CM000668.2:g.79025587A>G	GRCh38
NC_000006.11:g.79735304A>G , CM000668.1:g.79735304A>G	GRCh37
NC_000006.10:g.79792023A>G	NCBI36
NG_051932.1:g.57712T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000700012.1:c.873T>C	ENSP00000514753.1:p.Tyr291=
ENST00000700013.1:c.873T>C	ENSP00000514754.1:p.Tyr291=
ENST00000700114.1:c.795T>C	ENSP00000514808.1:p.Tyr265=
ENST00000700115.1:c.855T>C	ENSP00000514809.1:p.Tyr285=
ENST00000700118.1:c.855T>C	ENSP00000514810.1:p.Tyr285=
ENST00000700119.1:c.*666T>C	ENSP00000514811.1:n.*666T>C
ENST00000275034.5:c.855T>C MANE Select	ENSP00000275034.3:p.Tyr285=
ENST00000275034.4:c.855T>C	ENSP00000275034.3:p.Tyr285=
NM_017934.5:c.855T>C	NP_060404.3:p.Tyr285=
XM_005248729.3:c.855T>C	XP_005248786.1:p.Tyr285=
XM_011535917.1:c.855T>C	XP_011534219.1:p.Tyr285=
XM_011535918.1:c.339T>C	XP_011534220.1:p.Tyr113=
XM_011535919.1:c.855T>C	XP_011534221.1:p.Tyr285=
XR_942499.1:n.1081T>C
NM_017934.6:c.855T>C	NP_060404.4:p.Tyr285=
XM_005248729.5:c.855T>C	XP_005248786.1:p.Tyr285=
XM_011535918.3:c.339T>C	XP_011534220.1:p.Tyr113=
XM_017010989.2:c.-875T>C	XP_016866478.1:n.-875T>C
XM_017010990.2:c.-875T>C	XP_016866479.1:n.-875T>C
NM_017934.7:c.855T>C MANE Select	NP_060404.4:p.Tyr285=