Canonical Allele Identifier: CA280079
Gene: UMOD HGNC NCBI

Linked Data

ClinVar Variation Id: 219224
ClinVar RCV Id: RCV000203590
dbSNP Id: rs13333226

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.20354332A>G , CM000678.2:g.20354332A>G GRCh38
NC_000016.9:g.20365654A>G , CM000678.1:g.20365654A>G GRCh37
NC_000016.8:g.20273155A>G NCBI36
NG_008151.1:g.3384T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000570689.5:c.-40+1862T>C ENSP00000460548.1:n.-40+1862T>C
XM_011545938.1:c.-40+1862T>C XP_011544240.1:n.-40+1862T>C