Canonical Allele Identifier: CA394984446

Gene: UMOD

Linked Data

• dbSNP Id: rs1341192987
• gnomAD v2: 16-20359834-C-G
• gnomAD v4: 16-20348512-C-G
• COSMIC: COSM5696455 ; COSM5696456
• MyVariant Identifiers: chr16:g.20359834C>G (hg19) ; chr16:g.20348512C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.20348512C>G , CM000678.2:g.20348512C>G	GRCh38
NC_000016.9:g.20359834C>G , CM000678.1:g.20359834C>G	GRCh37
NC_000016.8:g.20267335C>G	NCBI36
NG_008151.1:g.9204G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396138.9:c.789G>C MANE Select	ENSP00000379442.5:p.Gln263His
ENST00000302509.8:c.789G>C	ENSP00000306279.4:p.Gln263His
ENST00000396134.6:c.888G>C	ENSP00000379438.2:p.Gln296His
ENST00000396138.8:c.936G>C	ENSP00000379442.4:p.Gln312His
ENST00000570689.5:c.789G>C	ENSP00000460548.1:p.Gln263His
NM_001008389.2:c.789G>C	NP_001008390.1:p.Gln263His
NM_001278614.1:c.888G>C	NP_001265543.1:p.Gln296His
NM_003361.3:c.789G>C	NP_003352.2:p.Gln263His
XM_011545934.1:c.873G>C	XP_011544236.1:p.Gln291His
XM_011545935.1:c.789G>C	XP_011544237.1:p.Gln263His
XM_011545936.1:c.789G>C	XP_011544238.1:p.Gln263His
XM_011545937.1:c.789G>C	XP_011544239.1:p.Gln263His
XM_011545938.1:c.789G>C	XP_011544240.1:p.Gln263His
XM_011545939.1:c.873G>C	XP_011544241.1:p.Gln291His
XM_011545940.1:c.936G>C	XP_011544242.1:p.Gln312His
XM_011545934.2:c.789G>C	XP_011544236.2:p.Gln263His
XM_011545940.2:c.789G>C	XP_011544242.2:p.Gln263His
XM_024450433.1:c.789G>C	XP_024306201.1:p.Gln263His
NM_001008389.3:c.789G>C	NP_001008390.1:p.Gln263His
NM_001278614.2:c.888G>C	NP_001265543.1:p.Gln296His
NM_001378232.1:c.789G>C	NP_001365161.1:p.Gln263His
NM_001378233.1:c.789G>C	NP_001365162.1:p.Gln263His
NM_001378234.1:c.789G>C	NP_001365163.1:p.Gln263His
NM_001378235.1:c.789G>C	NP_001365164.1:p.Gln263His
NM_001378237.1:c.789G>C	NP_001365166.1:p.Gln263His
NM_003361.4:c.789G>C MANE Select	NP_003352.2:p.Gln263His
NR_165456.1:n.1014G>C