Canonical Allele Identifier: CA153815788

Gene: UMAD1

Linked Data

• dbSNP Id: rs985106923
• gnomAD v3: 7-7739617-C-A
• gnomAD v4: 7-7739617-C-A
• MyVariant Identifiers: chr7:g.7779248C>A (hg19) ; chr7:g.7739617C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.7739617C>A , CM000669.2:g.7739617C>A	GRCh38
NC_000007.13:g.7779248C>A , CM000669.1:g.7779248C>A	GRCh37
NC_000007.12:g.7745773C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000682710.1:c.83-62053C>A MANE Select	ENSP00000507605.1:n.83-62053C>A
ENST00000418534.3:n.601-633G>T
ENST00000463725.5:n.323-62053C>A
ENST00000482067.3:n.174-62053C>A
ENST00000599208.1:n.436-633G>T
ENST00000628552.1:n.239-633G>T
ENST00000636849.1:c.83-62053C>A	ENSP00000489648.1:n.83-62053C>A
ENST00000638342.1:c.83-62053C>A	ENSP00000491286.1:n.83-62053C>A
ENST00000639110.1:c.83-62053C>A	ENSP00000491319.1:n.83-62053C>A
ENST00000639343.1:c.263+726C>A	ENSP00000491077.1:n.263+726C>A
NM_001302348.1:c.83-62053C>A	NP_001289277.1:n.83-62053C>A
NM_001302349.1:c.83-62053C>A	NP_001289278.1:n.83-62053C>A
NM_001302350.1:c.-23-62053C>A	NP_001289279.1:n.-23-62053C>A
XR_927014.1:n.182-633G>T
NM_001302348.2:c.83-62053C>A MANE Select	NP_001289277.1:n.83-62053C>A
NM_001302349.2:c.83-62053C>A	NP_001289278.1:n.83-62053C>A
NM_001302350.2:c.-23-62053C>A	NP_001289279.1:n.-23-62053C>A