Canonical Allele Identifier: CA321531746

Gene: UMODL1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.42142789G>T , CM000683.2:g.42142789G>T	GRCh38
NC_000021.8:g.43562899G>T , CM000683.1:g.43562899G>T	GRCh37
NC_000021.7:g.42435968G>T	NCBI36
NG_055246.1:g.84831G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000408910.7:c.4672G>T MANE Select	ENSP00000386147.2:n.4672G>T
ENST00000400423.6:n.2416G>T
ENST00000400424.6:c.*715G>T	ENSP00000383276.1:n.*715G>T
ENST00000400427.5:c.*715G>T	ENSP00000383279.1:n.*715G>T
ENST00000408910.6:c.4672G>T	ENSP00000386147.2:n.4672G>T
ENST00000408989.6:c.5056G>T	ENSP00000386126.2:n.5056G>T
NM_001004416.2:c.4672G>T	NP_001004416.2:n.4672G>T
NM_001199527.1:c.*715G>T	NP_001186456.1:n.*715G>T
NM_001199528.2:c.*715G>T	NP_001186457.2:n.*715G>T
NM_173568.3:c.5056G>T	NP_775839.3:n.5056G>T
XM_011529787.1:c.*715G>T	XP_011528089.1:n.*715G>T
XM_011529788.1:c.*715G>T	XP_011528090.1:n.*715G>T
XM_011529789.1:c.*715G>T	XP_011528091.1:n.*715G>T
XM_011529790.1:c.*715G>T	XP_011528092.1:n.*715G>T
XM_011529791.1:c.*715G>T	XP_011528093.1:n.*715G>T
XM_011529793.1:c.*715G>T	XP_011528095.1:n.*715G>T
XM_011529794.1:c.*715G>T	XP_011528096.1:n.*715G>T
XM_011529795.1:c.*715G>T	XP_011528097.1:n.*715G>T
XM_011529797.1:c.*715G>T	XP_011528099.1:n.*715G>T
XM_011529798.1:c.*715G>T	XP_011528100.1:n.*715G>T
XM_011529799.1:c.*715G>T	XP_011528101.1:n.*715G>T
XM_011529800.1:c.*715G>T	XP_011528102.1:n.*715G>T
XM_011529802.1:c.*715G>T	XP_011528104.1:n.*715G>T
XM_017028506.1:c.*715G>T	XP_016883995.1:n.*715G>T
XM_017028507.1:c.*715G>T	XP_016883996.1:n.*715G>T
XM_017028508.1:c.*715G>T	XP_016883997.1:n.*715G>T
NM_001199527.2:c.*715G>T	NP_001186456.2:n.*715G>T
NM_001199528.3:c.*715G>T	NP_001186457.3:n.*715G>T
NM_001004416.3:c.4672G>T MANE Select	NP_001004416.3:n.4672G>T
NM_001199527.3:c.*715G>T	NP_001186456.2:n.*715G>T
NM_001199528.4:c.*715G>T	NP_001186457.3:n.*715G>T
NM_173568.4:c.5056G>T	NP_775839.4:n.5056G>T