Canonical Allele Identifier: CA126027
Gene: HP HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 15898
ClinVar RCV Id: RCV000017244
dbSNP Id: rs137853233

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.72057415A>G , CM000678.2:g.72057415A>G GRCh38
NC_000016.8:g.70648815A>G NCBI36
NC_000016.9:g.72091314A>G , CM000678.1:g.72091314A>G GRCh37
NG_012651.1:g.7807A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000228226.12:c.19-839A>G ENSP00000228226.9:p.=
ENST00000355906.9:c.214A>G ENSP00000348170.5:p.Lys72Glu
ENST00000357763.8:c.214A>G ENSP00000350406.5:p.Lys72Glu
ENST00000398131.6:c.190+784A>G ENSP00000381199.2:p.=
ENST00000561927.3:n.209A>G
ENST00000562153.5:c.285-13058T>C ENSP00000454635.1:p.=
ENST00000562488.5:n.244A>G
ENST00000562526.5:c.89-839A>G ENSP00000454413.1:p.=
ENST00000564499.5:c.89-839A>G ENSP00000456503.1:p.=
ENST00000565574.5:c.214A>G ENSP00000454966.1:p.Lys72Glu
ENST00000566821.1:n.2006+784A>G
ENST00000567185.7:n.209A>G
ENST00000567612.2:n.209A>G
ENST00000568417.6:c.89-839A>G ENSP00000462662.1:p.=
ENST00000569639.5:c.89-839A>G ENSP00000463755.1:p.=
ENST00000570083.5:c.89-839A>G ENSP00000457629.1:p.=
ENST00000576168.6:n.209A>G
ENST00000613898.1:c.94+810A>G ENSP00000478279.1:p.=
NM_001126102.1:c.190+784A>G VV NP_001119574.1:p.=
NM_005143.3:c.214A>G VV NP_005134.1:p.Lys72Glu
XM_005255922.3:c.214A>G XP_005255979.2:p.Lys72Glu