Canonical Allele Identifier: CA16042559
Gene: PHIP HGNC NCBI

Linked Data

ClinVar Variation Id: 373303
ClinVar RCV Id: RCV000414004
dbSNP Id: rs1057518337
MyVariant Identifiers: chr6:g.79752615T>C (hg19) chr6:g.79042898T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.79042898T>C , CM000668.2:g.79042898T>C GRCh38
NC_000006.11:g.79752615T>C , CM000668.1:g.79752615T>C GRCh37
NC_000006.10:g.79809334T>C NCBI36
NG_051932.1:g.40401A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000700012.1:c.563A>G ENSP00000514753.1:p.His188Arg
ENST00000700013.1:c.563A>G ENSP00000514754.1:p.His188Arg
ENST00000700114.1:c.485A>G ENSP00000514808.1:p.His162Arg
ENST00000700115.1:c.545A>G ENSP00000514809.1:p.His182Arg
ENST00000700118.1:c.545A>G ENSP00000514810.1:p.His182Arg
ENST00000700119.1:c.*356A>G ENSP00000514811.1:n.*356A>G
ENST00000700120.1:n.473A>G
ENST00000275034.5:c.545A>G MANE Select ENSP00000275034.3:p.His182Arg
ENST00000275034.4:c.545A>G ENSP00000275034.3:p.His182Arg
NM_017934.5:c.545A>G NP_060404.3:p.His182Arg
XM_005248729.3:c.545A>G XP_005248786.1:p.His182Arg
XM_011535917.1:c.545A>G XP_011534219.1:p.His182Arg
XM_011535918.1:c.29A>G XP_011534220.1:p.His10Arg
XM_011535919.1:c.545A>G XP_011534221.1:p.His182Arg
XR_942499.1:n.771A>G
NM_017934.6:c.545A>G NP_060404.4:p.His182Arg
XM_005248729.5:c.545A>G XP_005248786.1:p.His182Arg
XM_011535918.3:c.29A>G XP_011534220.1:p.His10Arg
XM_017010989.2:c.-1185A>G XP_016866478.1:n.-1185A>G
XM_017010990.2:c.-1185A>G XP_016866479.1:n.-1185A>G
NM_017934.7:c.545A>G MANE Select NP_060404.4:p.His182Arg
Search 100 bp 5'
Search 100 bp 3'