Canonical Allele Identifier: CA364638305
Gene: PHIP HGNC NCBI

Linked Data

ClinVar Variation Id: 426892
ClinVar RCV Id: RCV000490131 RCV000770903
dbSNP Id: rs1085307845
MyVariant Identifiers: chr6:g.79735299G>T (hg19) chr6:g.79025582G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.79025582G>T , CM000668.2:g.79025582G>T GRCh38
NC_000006.11:g.79735299G>T , CM000668.1:g.79735299G>T GRCh37
NC_000006.10:g.79792018G>T NCBI36
NG_051932.1:g.57717C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000700012.1:c.878C>A ENSP00000514753.1:p.Ser293Tyr
ENST00000700013.1:c.878C>A ENSP00000514754.1:p.Ser293Tyr
ENST00000700114.1:c.800C>A ENSP00000514808.1:p.Ser267Tyr
ENST00000700115.1:c.860C>A ENSP00000514809.1:p.Ser287Tyr
ENST00000700118.1:c.860C>A ENSP00000514810.1:p.Ser287Tyr
ENST00000700119.1:c.*671C>A ENSP00000514811.1:n.*671C>A
ENST00000275034.5:c.860C>A MANE Select ENSP00000275034.3:p.Ser287Tyr
ENST00000275034.4:c.860C>A ENSP00000275034.3:p.Ser287Tyr
NM_017934.5:c.860C>A NP_060404.3:p.Ser287Tyr
XM_005248729.3:c.860C>A XP_005248786.1:p.Ser287Tyr
XM_011535917.1:c.860C>A XP_011534219.1:p.Ser287Tyr
XM_011535918.1:c.344C>A XP_011534220.1:p.Ser115Tyr
XM_011535919.1:c.860C>A XP_011534221.1:p.Ser287Tyr
XR_942499.1:n.1086C>A
NM_017934.6:c.860C>A NP_060404.4:p.Ser287Tyr
XM_005248729.5:c.860C>A XP_005248786.1:p.Ser287Tyr
XM_011535918.3:c.344C>A XP_011534220.1:p.Ser115Tyr
XM_017010989.2:c.-870C>A XP_016866478.1:n.-870C>A
XM_017010990.2:c.-870C>A XP_016866479.1:n.-870C>A
NM_017934.7:c.860C>A MANE Select NP_060404.4:p.Ser287Tyr
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