Canonical Allele Identifier: CA621250521

Gene: UMOD

Linked Data

• dbSNP Id: rs1409668651
• gnomAD v2: 16-20354388-G-C
• gnomAD v3: 16-20343066-G-C
• gnomAD v4: 16-20343066-G-C
• MyVariant Identifiers: chr16:g.20354388G>C (hg19) ; chr16:g.20343066G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.20343066G>C , CM000678.2:g.20343066G>C	GRCh38
NC_000016.9:g.20354388G>C , CM000678.1:g.20354388G>C	GRCh37
NC_000016.8:g.20261889G>C	NCBI36
NG_008151.1:g.14650C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000396138.9:c.1331+958C>G MANE Select	ENSP00000379442.5:n.1331+958C>G
ENST00000302509.8:c.1331+958C>G	ENSP00000306279.4:n.1331+958C>G
ENST00000396134.6:c.1430+958C>G	ENSP00000379438.2:n.1430+958C>G
ENST00000396138.8:c.1478+958C>G	ENSP00000379442.4:n.1478+958C>G
ENST00000570689.5:c.1331+958C>G	ENSP00000460548.1:n.1331+958C>G
NM_001008389.2:c.1331+958C>G	NP_001008390.1:n.1331+958C>G
NM_001278614.1:c.1430+958C>G	NP_001265543.1:n.1430+958C>G
NM_003361.3:c.1331+958C>G	NP_003352.2:n.1331+958C>G
XM_011545934.1:c.1416-512C>G	XP_011544236.1:n.1416-512C>G
XM_011545935.1:c.1332-512C>G	XP_011544237.1:n.1332-512C>G
XM_011545936.1:c.1332-512C>G	XP_011544238.1:n.1332-512C>G
XM_011545937.1:c.1332-512C>G	XP_011544239.1:n.1332-512C>G
XM_011545938.1:c.1332-512C>G	XP_011544240.1:n.1332-512C>G
XM_011545939.1:c.1415+958C>G	XP_011544241.1:n.1415+958C>G
XM_011545940.1:c.1479-512C>G	XP_011544242.1:n.1479-512C>G
XM_011545934.2:c.1332-512C>G	XP_011544236.2:n.1332-512C>G
XM_011545940.2:c.1332-512C>G	XP_011544242.2:n.1332-512C>G
XM_024450433.1:c.1332-512C>G	XP_024306201.1:n.1332-512C>G
NM_001008389.3:c.1331+958C>G	NP_001008390.1:n.1331+958C>G
NM_001278614.2:c.1430+958C>G	NP_001265543.1:n.1430+958C>G
NM_001378232.1:c.1331+958C>G	NP_001365161.1:n.1331+958C>G
NM_001378233.1:c.1331+958C>G	NP_001365162.1:n.1331+958C>G
NM_001378234.1:c.1332-512C>G	NP_001365163.1:n.1332-512C>G
NM_001378235.1:c.1332-512C>G	NP_001365164.1:n.1332-512C>G
NM_003361.4:c.1331+958C>G MANE Select	NP_003352.2:n.1331+958C>G
NR_165456.1:n.1554+958C>G