Canonical Allele Identifier: CA2501627130

Gene: UMAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.7739499G>A , CM000669.2:g.7739499G>A	GRCh38
NC_000007.13:g.7779130G>A , CM000669.1:g.7779130G>A	GRCh37
NC_000007.12:g.7745655G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682710.1:c.83-62171G>A MANE Select	ENSP00000507605.1:n.83-62171G>A
ENST00000418534.3:n.601-515C>T
ENST00000463725.5:n.323-62171G>A
ENST00000482067.3:n.174-62171G>A
ENST00000599208.1:n.436-515C>T
ENST00000628552.1:n.239-515C>T
ENST00000636849.1:c.83-62171G>A	ENSP00000489648.1:n.83-62171G>A
ENST00000638342.1:c.83-62171G>A	ENSP00000491286.1:n.83-62171G>A
ENST00000639110.1:c.83-62171G>A	ENSP00000491319.1:n.83-62171G>A
ENST00000639343.1:c.263+608G>A	ENSP00000491077.1:n.263+608G>A
NM_001302348.1:c.83-62171G>A	NP_001289277.1:n.83-62171G>A
NM_001302349.1:c.83-62171G>A	NP_001289278.1:n.83-62171G>A
NM_001302350.1:c.-23-62171G>A	NP_001289279.1:n.-23-62171G>A
XR_927014.1:n.182-515C>T
NM_001302348.2:c.83-62171G>A MANE Select	NP_001289277.1:n.83-62171G>A
NM_001302349.2:c.83-62171G>A	NP_001289278.1:n.83-62171G>A
NM_001302350.2:c.-23-62171G>A	NP_001289279.1:n.-23-62171G>A