Canonical Allele Identifier: CA842493258
Gene: UMAD1 HGNC NCBI

Linked Data

dbSNP Id: rs1319348222

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.7809181T>C , CM000669.2:g.7809181T>C GRCh38
NC_000007.13:g.7848812T>C , CM000669.1:g.7848812T>C GRCh37
NC_000007.12:g.7815337T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000682710.1:c.156+7438T>C MANE Select ENSP00000507605.1:n.156+7438T>C
ENST00000406829.2:n.168+7438T>C
ENST00000463725.5:n.396+7438T>C
ENST00000482067.3:n.247+7438T>C
ENST00000636849.1:c.156+7438T>C ENSP00000489648.1:n.156+7438T>C
ENST00000638342.1:c.156+7438T>C ENSP00000491286.1:n.156+7438T>C
ENST00000639110.1:c.156+7438T>C ENSP00000491319.1:n.156+7438T>C
ENST00000639343.1:c.*58+7438T>C ENSP00000491077.1:n.*58+7438T>C
NM_001302348.1:c.156+7438T>C NP_001289277.1:n.156+7438T>C
NM_001302349.1:c.156+7438T>C NP_001289278.1:n.156+7438T>C
NM_001302350.1:c.51+7438T>C NP_001289279.1:n.51+7438T>C
NM_001302348.2:c.156+7438T>C MANE Select NP_001289277.1:n.156+7438T>C
NM_001302349.2:c.156+7438T>C NP_001289278.1:n.156+7438T>C
NM_001302350.2:c.51+7438T>C NP_001289279.1:n.51+7438T>C