Canonical Allele Identifier: CA120289

Identifiers and link-outs to other resources

ClinVar Variation Id: 9308
ClinVar RCV Id: RCV000009892
dbSNP Id: rs6058017

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.34269192A>G , CM000682.2:g.34269192A>G GRCh38
NC_000020.10:g.32856998A>G , CM000682.1:g.32856998A>G GRCh37
NC_000020.9:g.32320659A>G NCBI36
NG_011439.1:g.13828A>G

Transcript Alleles

HGVS Amino-acid change
NM_001672.2:c.*25A>G (ASIP) VV NP_001663.2:p.=
XM_005260412.2:c.*25A>G (ASIP) XP_005260469.1:p.=
XM_011528657.1:c.*7+11835T>C (AHCY) XP_011526959.1:p.=
XM_011528820.1:c.*25A>G (ASIP) XP_011527122.1:p.=
XM_011528821.1:c.*25A>G (ASIP) XP_011527123.1:p.=
XM_011528822.1:c.*25A>G (ASIP) XP_011527124.1:p.=
XM_011528823.1:c.*25A>G (ASIP) XP_011527125.1:p.=
XM_005260412.3:c.*25A>G (ASIP) XP_005260469.1:p.=
XM_011528657.2:c.*7+11835T>C (AHCY) XP_011526959.2:p.=
XM_011528820.2:c.*25A>G (ASIP) XP_011527122.1:p.=
ENST00000374954.3:c.*25A>G ENSP00000364092.3:p.=