Canonical Allele Identifier: CA1098152535

Gene: UMAD1

Linked Data

• dbSNP Id: rs1781422272
• gnomAD v3: 7-7739542-A-C
• gnomAD v4: 7-7739542-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.7739542A>C , CM000669.2:g.7739542A>C	GRCh38
NC_000007.13:g.7779173A>C , CM000669.1:g.7779173A>C	GRCh37
NC_000007.12:g.7745698A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682710.1:c.83-62128A>C MANE Select	ENSP00000507605.1:n.83-62128A>C
ENST00000418534.3:n.601-558T>G
ENST00000463725.5:n.323-62128A>C
ENST00000482067.3:n.174-62128A>C
ENST00000599208.1:n.436-558T>G
ENST00000628552.1:n.239-558T>G
ENST00000636849.1:c.83-62128A>C	ENSP00000489648.1:n.83-62128A>C
ENST00000638342.1:c.83-62128A>C	ENSP00000491286.1:n.83-62128A>C
ENST00000639110.1:c.83-62128A>C	ENSP00000491319.1:n.83-62128A>C
ENST00000639343.1:c.263+651A>C	ENSP00000491077.1:n.263+651A>C
NM_001302348.1:c.83-62128A>C	NP_001289277.1:n.83-62128A>C
NM_001302349.1:c.83-62128A>C	NP_001289278.1:n.83-62128A>C
NM_001302350.1:c.-23-62128A>C	NP_001289279.1:n.-23-62128A>C
XR_927014.1:n.182-558T>G
NM_001302348.2:c.83-62128A>C MANE Select	NP_001289277.1:n.83-62128A>C
NM_001302349.2:c.83-62128A>C	NP_001289278.1:n.83-62128A>C
NM_001302350.2:c.-23-62128A>C	NP_001289279.1:n.-23-62128A>C