Canonical Allele Identifier: CA915260105

Gene: DSP

Linked Data

• ClinVar Variation Id: 1579147
• ClinVar RCV Id: RCV002102410
• dbSNP Id: rs1759185037
• gnomAD v2: 6-7575039-A-C
• gnomAD v3: 6-7574806-A-C
• gnomAD v4: 6-7574806-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7574806A>C , CM000668.2:g.7574806A>C	GRCh38
NC_000006.11:g.7575039A>C , CM000668.1:g.7575039A>C	GRCh37
NC_000006.10:g.7520038A>C	NCBI36
NG_008803.1:g.38170A>C , LRG_423:g.38170A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.2436+11A>C	ENSP00000518230.1:n.2436+11A>C
ENST00000684395.1:n.1077+11A>C
ENST00000379802.8:c.2436+11A>C MANE Select	ENSP00000369129.3:n.2436+11A>C
ENST00000379802.7:c.2436+11A>C	ENSP00000369129.3:n.2436+11A>C
ENST00000418664.2:c.2436+11A>C	ENSP00000396591.2:n.2436+11A>C
NM_001008844.1:c.2436+11A>C	NP_001008844.1:n.2436+11A>C
NM_004415.2:c.2436+11A>C , LRG_423t1:c.2436+11A>C	NP_004406.2:n.2436+11A>C
XM_011514323.1:c.2436+11A>C	XP_011512625.1:n.2436+11A>C
NM_001008844.2:c.2436+11A>C	NP_001008844.1:n.2436+11A>C
NM_001319034.1:c.2436+11A>C	NP_001305963.1:n.2436+11A>C
NM_004415.3:c.2436+11A>C	NP_004406.2:n.2436+11A>C
NM_004415.4:c.2436+11A>C MANE Select	NP_004406.2:n.2436+11A>C
NM_001008844.3:c.2436+11A>C	NP_001008844.1:n.2436+11A>C
NM_001319034.2:c.2436+11A>C	NP_001305963.1:n.2436+11A>C