Canonical Allele Identifier: CA1686250875
Gene: UMAD1 HGNC NCBI

Linked Data

dbSNP Id: rs1782978819

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.7809208C>G , CM000669.2:g.7809208C>G GRCh38
NC_000007.13:g.7848839C>G , CM000669.1:g.7848839C>G GRCh37
NC_000007.12:g.7815364C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000682710.1:c.156+7465C>G MANE Select ENSP00000507605.1:n.156+7465C>G
ENST00000406829.2:n.168+7465C>G
ENST00000463725.5:n.396+7465C>G
ENST00000482067.3:n.247+7465C>G
ENST00000636849.1:c.156+7465C>G ENSP00000489648.1:n.156+7465C>G
ENST00000638342.1:c.156+7465C>G ENSP00000491286.1:n.156+7465C>G
ENST00000639110.1:c.156+7465C>G ENSP00000491319.1:n.156+7465C>G
ENST00000639343.1:c.*58+7465C>G ENSP00000491077.1:n.*58+7465C>G
NM_001302348.1:c.156+7465C>G NP_001289277.1:n.156+7465C>G
NM_001302349.1:c.156+7465C>G NP_001289278.1:n.156+7465C>G
NM_001302350.1:c.51+7465C>G NP_001289279.1:n.51+7465C>G
NM_001302348.2:c.156+7465C>G MANE Select NP_001289277.1:n.156+7465C>G
NM_001302349.2:c.156+7465C>G NP_001289278.1:n.156+7465C>G
NM_001302350.2:c.51+7465C>G NP_001289279.1:n.51+7465C>G