Canonical Allele Identifier: CA16290350

Gene: UMAD1

Linked Data

• dbSNP Id: rs10259199
• gnomAD v2: 7-7848912-T-C
• gnomAD v3: 7-7809281-T-C
• gnomAD v4: 7-7809281-T-C
• MyVariant Identifiers: chr7:g.7848912T>C (hg19) ; chr7:g.7809281T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.7809281T>C , CM000669.2:g.7809281T>C	GRCh38
NC_000007.13:g.7848912T>C , CM000669.1:g.7848912T>C	GRCh37
NC_000007.12:g.7815437T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000682710.1:c.156+7538T>C MANE Select	ENSP00000507605.1:n.156+7538T>C
ENST00000406829.2:n.168+7538T>C
ENST00000463725.5:n.396+7538T>C
ENST00000482067.3:n.247+7538T>C
ENST00000636849.1:c.156+7538T>C	ENSP00000489648.1:n.156+7538T>C
ENST00000638342.1:c.156+7538T>C	ENSP00000491286.1:n.156+7538T>C
ENST00000639110.1:c.156+7538T>C	ENSP00000491319.1:n.156+7538T>C
ENST00000639343.1:c.*58+7538T>C	ENSP00000491077.1:n.*58+7538T>C
NM_001302348.1:c.156+7538T>C	NP_001289277.1:n.156+7538T>C
NM_001302349.1:c.156+7538T>C	NP_001289278.1:n.156+7538T>C
NM_001302350.1:c.51+7538T>C	NP_001289279.1:n.51+7538T>C
NM_001302348.2:c.156+7538T>C MANE Select	NP_001289277.1:n.156+7538T>C
NM_001302349.2:c.156+7538T>C	NP_001289278.1:n.156+7538T>C
NM_001302350.2:c.51+7538T>C	NP_001289279.1:n.51+7538T>C