Canonical Allele Identifier: CA13728720
Gene: UTP20 HGNC NCBI
dbSNP:
10507130
gnomAD v2:
12:101753954 G / A
gnomAD v3:
12:101360176 G / A
gnomAD v4:
chr12-101360176-G-A
Joint Max Group AF 0.35453835 (EAS)
Genomes Max Group AF 0.35453835 (EAS)
MyVariant.info:
GRCh38 chr12:g.101360176G>A
GRCh37 chr12:g.101753954G>A
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101360176G>A , CM000674.2:g.101360176G>A GRCh38
NC_000012.11:g.101753954G>A , CM000674.1:g.101753954G>A GRCh37
NC_000012.10:g.100278085G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000261637.5:c.5692-1786G>A MANE Select ENSP00000261637.4:n.5692-1786G>A
ENST00000261637.4:c.5692-1786G>A ENSP00000261637.4:n.5692-1786G>A
NM_014503.2:c.5692-1786G>A NP_055318.2:n.5692-1786G>A
XM_006719343.2:c.5692-1786G>A XP_006719406.1:n.5692-1786G>A
NM_014503.3:c.5692-1786G>A MANE Select NP_055318.2:n.5692-1786G>A
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