Canonical Allele Identifier: CA143899
Gene: ASB10 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 50953
ClinVar RCV Id: RCV000043658
dbSNP Id: rs104886474

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.151181424C>G , CM000669.2:g.151181424C>G GRCh38
NC_000007.12:g.150509444C>G NCBI36
NC_000007.13:g.150878511C>G , CM000669.1:g.150878511C>G GRCh37
NG_017016.1:g.11409G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000275838.5:c.619G>C ENSP00000275838.1:p.Val207Leu
ENST00000377867.7:c.574G>C ENSP00000367098.3:p.Val192Leu
ENST00000420175.2:c.619G>C ENSP00000391137.2:p.Val207Leu
NM_001142459.1:c.619G>C VV NP_001135931.2:p.Val207Leu
NM_001142460.1:c.619G>C VV NP_001135932.2:p.Val207Leu
NM_080871.3:c.574G>C VV NP_543147.2:p.Val192Leu
XM_005249949.3:n.754G>C XP_005250006.1:p.Val252Leu