Canonical Allele Identifier: CA595455984

Gene: DNMBP

Linked Data

• dbSNP Id: rs1236281530
• gnomAD v2: 10-101672245-C-T
• gnomAD v3: 10-99912488-C-T
• gnomAD v4: 10-99912488-C-T
• MyVariant Identifiers: chr10:g.101672245C>T (hg19) ; chr10:g.99912488C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.99912488C>T , CM000672.2:g.99912488C>T	GRCh38
NC_000010.10:g.101672245C>T , CM000672.1:g.101672245C>T	GRCh37
NC_000010.9:g.101662235C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000324109.9:c.2261-3342G>A MANE Select	ENSP00000315659.4:n.2261-3342G>A
ENST00000543621.6:c.124+1465G>A	ENSP00000443657.2:n.124+1465G>A
ENST00000636706.1:c.1157-3342G>A	ENSP00000489875.1:n.1157-3342G>A
ENST00000324109.8:c.2261-3342G>A	ENSP00000315659.4:n.2261-3342G>A
ENST00000422692.1:c.124+1465G>A	ENSP00000409476.1:n.124+1465G>A
ENST00000543621.5:c.-3+1465G>A	ENSP00000443657.1:n.-3+1465G>A
NM_015221.2:c.2261-3342G>A	NP_056036.1:n.2261-3342G>A
XM_006717735.2:c.2261-3342G>A	XP_006717798.1:n.2261-3342G>A
XM_006717736.2:c.2261-3342G>A	XP_006717799.1:n.2261-3342G>A
XM_011539559.1:c.2261-3342G>A	XP_011537861.1:n.2261-3342G>A
XM_011539560.1:c.1157-3342G>A	XP_011537862.1:n.1157-3342G>A
NM_001318326.1:c.1157-3342G>A	NP_001305255.1:n.1157-3342G>A
NM_001318327.1:c.124+1465G>A	NP_001305256.1:n.124+1465G>A
NM_015221.3:c.2261-3342G>A	NP_056036.1:n.2261-3342G>A
XM_006717735.3:c.2261-3342G>A	XP_006717798.1:n.2261-3342G>A
XM_011539559.2:c.2261-3342G>A	XP_011537861.1:n.2261-3342G>A
NM_015221.4:c.2261-3342G>A MANE Select	NP_056036.1:n.2261-3342G>A
NM_001318326.2:c.1157-3342G>A	NP_001305255.1:n.1157-3342G>A