Canonical Allele Identifier: CA279253468
Gene: UMOD HGNC NCBI

Linked Data

dbSNP Id: rs944507469
gnomAD v2: 16-20364455-C-A
gnomAD v3: 16-20353133-C-A
gnomAD v4: 16-20353133-C-A
MyVariant Identifiers: chr16:g.20364455C>A (hg19) chr16:g.20353133C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.20353133C>A , CM000678.2:g.20353133C>A GRCh38
NC_000016.9:g.20364455C>A , CM000678.1:g.20364455C>A GRCh37
NC_000016.8:g.20271956C>A NCBI36
NG_008151.1:g.4583G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000570689.5:c.-39-2357G>T ENSP00000460548.1:n.-39-2357G>T
XM_011545938.1:c.-39-2357G>T XP_011544240.1:n.-39-2357G>T
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