Canonical Allele Identifier: CA572783033

Gene: UMAD1

Linked Data

• dbSNP Id: rs1362275316
• gnomAD v2: 7-7779359-T-C
• gnomAD v3: 7-7739728-T-C
• gnomAD v4: 7-7739728-T-C
• MyVariant Identifiers: chr7:g.7779359T>C (hg19) ; chr7:g.7739728T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.7739728T>C , CM000669.2:g.7739728T>C	GRCh38
NC_000007.13:g.7779359T>C , CM000669.1:g.7779359T>C	GRCh37
NC_000007.12:g.7745884T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682710.1:c.83-61942T>C MANE Select	ENSP00000507605.1:n.83-61942T>C
ENST00000418534.3:n.601-744A>G
ENST00000463725.5:n.323-61942T>C
ENST00000482067.3:n.174-61942T>C
ENST00000599208.1:n.436-744A>G
ENST00000628552.1:n.239-744A>G
ENST00000636849.1:c.83-61942T>C	ENSP00000489648.1:n.83-61942T>C
ENST00000638342.1:c.83-61942T>C	ENSP00000491286.1:n.83-61942T>C
ENST00000639110.1:c.83-61942T>C	ENSP00000491319.1:n.83-61942T>C
ENST00000639343.1:c.263+837T>C	ENSP00000491077.1:n.263+837T>C
NM_001302348.1:c.83-61942T>C	NP_001289277.1:n.83-61942T>C
NM_001302349.1:c.83-61942T>C	NP_001289278.1:n.83-61942T>C
NM_001302350.1:c.-23-61942T>C	NP_001289279.1:n.-23-61942T>C
XR_927014.1:n.182-744A>G
NM_001302348.2:c.83-61942T>C MANE Select	NP_001289277.1:n.83-61942T>C
NM_001302349.2:c.83-61942T>C	NP_001289278.1:n.83-61942T>C
NM_001302350.2:c.-23-61942T>C	NP_001289279.1:n.-23-61942T>C