Canonical Allele Identifier: CA842415215
Gene: UMAD1 HGNC NCBI

Linked Data

dbSNP Id: rs1398800471
gnomAD v3: 7-7739599-A-T
gnomAD v4: 7-7739599-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.7739599A>T , CM000669.2:g.7739599A>T GRCh38
NC_000007.13:g.7779230A>T , CM000669.1:g.7779230A>T GRCh37
NC_000007.12:g.7745755A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000682710.1:c.83-62071A>T MANE Select ENSP00000507605.1:n.83-62071A>T
ENST00000418534.3:n.601-615T>A
ENST00000463725.5:n.323-62071A>T
ENST00000482067.3:n.174-62071A>T
ENST00000599208.1:n.436-615T>A
ENST00000628552.1:n.239-615T>A
ENST00000636849.1:c.83-62071A>T ENSP00000489648.1:n.83-62071A>T
ENST00000638342.1:c.83-62071A>T ENSP00000491286.1:n.83-62071A>T
ENST00000639110.1:c.83-62071A>T ENSP00000491319.1:n.83-62071A>T
ENST00000639343.1:c.263+708A>T ENSP00000491077.1:n.263+708A>T
NM_001302348.1:c.83-62071A>T NP_001289277.1:n.83-62071A>T
NM_001302349.1:c.83-62071A>T NP_001289278.1:n.83-62071A>T
NM_001302350.1:c.-23-62071A>T NP_001289279.1:n.-23-62071A>T
XR_927014.1:n.182-615T>A
NM_001302348.2:c.83-62071A>T MANE Select NP_001289277.1:n.83-62071A>T
NM_001302349.2:c.83-62071A>T NP_001289278.1:n.83-62071A>T
NM_001302350.2:c.-23-62071A>T NP_001289279.1:n.-23-62071A>T