Canonical Allele Identifier: CA842415221

Gene: UMAD1

Linked Data

• dbSNP Id: rs1241815839
• gnomAD v3: 7-7739622-C-G
• gnomAD v4: 7-7739622-C-G
• MyVariant Identifiers: chr7:g.7779253C>G (hg19) ; chr7:g.7739622C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.7739622C>G , CM000669.2:g.7739622C>G	GRCh38
NC_000007.13:g.7779253C>G , CM000669.1:g.7779253C>G	GRCh37
NC_000007.12:g.7745778C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000682710.1:c.83-62048C>G MANE Select	ENSP00000507605.1:n.83-62048C>G
ENST00000418534.3:n.601-638G>C
ENST00000463725.5:n.323-62048C>G
ENST00000482067.3:n.174-62048C>G
ENST00000599208.1:n.436-638G>C
ENST00000628552.1:n.239-638G>C
ENST00000636849.1:c.83-62048C>G	ENSP00000489648.1:n.83-62048C>G
ENST00000638342.1:c.83-62048C>G	ENSP00000491286.1:n.83-62048C>G
ENST00000639110.1:c.83-62048C>G	ENSP00000491319.1:n.83-62048C>G
ENST00000639343.1:c.263+731C>G	ENSP00000491077.1:n.263+731C>G
NM_001302348.1:c.83-62048C>G	NP_001289277.1:n.83-62048C>G
NM_001302349.1:c.83-62048C>G	NP_001289278.1:n.83-62048C>G
NM_001302350.1:c.-23-62048C>G	NP_001289279.1:n.-23-62048C>G
XR_927014.1:n.182-638G>C
NM_001302348.2:c.83-62048C>G MANE Select	NP_001289277.1:n.83-62048C>G
NM_001302349.2:c.83-62048C>G	NP_001289278.1:n.83-62048C>G
NM_001302350.2:c.-23-62048C>G	NP_001289279.1:n.-23-62048C>G