Canonical Allele Identifier: CA1098152613
Gene: UMAD1 HGNC NCBI

Linked Data

dbSNP Id: rs1781427127
gnomAD v3: 7-7739764-G-A
gnomAD v4: 7-7739764-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.7739764G>A , CM000669.2:g.7739764G>A GRCh38
NC_000007.13:g.7779395G>A , CM000669.1:g.7779395G>A GRCh37
NC_000007.12:g.7745920G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000682710.1:c.83-61906G>A MANE Select ENSP00000507605.1:n.83-61906G>A
ENST00000418534.3:n.601-780C>T
ENST00000463725.5:n.323-61906G>A
ENST00000482067.3:n.174-61906G>A
ENST00000599208.1:n.436-780C>T
ENST00000628552.1:n.239-780C>T
ENST00000636849.1:c.83-61906G>A ENSP00000489648.1:n.83-61906G>A
ENST00000638342.1:c.83-61906G>A ENSP00000491286.1:n.83-61906G>A
ENST00000639110.1:c.83-61906G>A ENSP00000491319.1:n.83-61906G>A
ENST00000639343.1:c.263+873G>A ENSP00000491077.1:n.263+873G>A
NM_001302348.1:c.83-61906G>A NP_001289277.1:n.83-61906G>A
NM_001302349.1:c.83-61906G>A NP_001289278.1:n.83-61906G>A
NM_001302350.1:c.-23-61906G>A NP_001289279.1:n.-23-61906G>A
XR_927014.1:n.182-780C>T
NM_001302348.2:c.83-61906G>A MANE Select NP_001289277.1:n.83-61906G>A
NM_001302349.2:c.83-61906G>A NP_001289278.1:n.83-61906G>A
NM_001302350.2:c.-23-61906G>A NP_001289279.1:n.-23-61906G>A