Canonical Allele Identifier: CA2580075353

Gene: DSP

Linked Data

• ClinVar Variation Id: 2150625
• ClinVar RCV Id: RCV003083476

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7565524A>C , CM000668.2:g.7565524A>C	GRCh38
NC_000006.11:g.7565757A>C , CM000668.1:g.7565757A>C	GRCh37
NC_000006.10:g.7510756A>C	NCBI36
NG_008803.1:g.28888A>C , LRG_423:g.28888A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000710359.1:c.939+4A>C	ENSP00000518230.1:n.939+4A>C
ENST00000682228.1:n.263+4A>C
ENST00000379802.8:c.939+4A>C MANE Select	ENSP00000369129.3:n.939+4A>C
ENST00000379802.7:c.939+4A>C	ENSP00000369129.3:n.939+4A>C
ENST00000418664.2:c.939+4A>C	ENSP00000396591.2:n.939+4A>C
ENST00000506617.1:n.461A>C
NM_001008844.1:c.939+4A>C	NP_001008844.1:n.939+4A>C
NM_004415.2:c.939+4A>C , LRG_423t1:c.939+4A>C	NP_004406.2:n.939+4A>C
XM_011514323.1:c.939+4A>C	XP_011512625.1:n.939+4A>C
NM_001008844.2:c.939+4A>C	NP_001008844.1:n.939+4A>C
NM_001319034.1:c.939+4A>C	NP_001305963.1:n.939+4A>C
NM_004415.3:c.939+4A>C	NP_004406.2:n.939+4A>C
NM_004415.4:c.939+4A>C MANE Select	NP_004406.2:n.939+4A>C
NM_001008844.3:c.939+4A>C	NP_001008844.1:n.939+4A>C
NM_001319034.2:c.939+4A>C	NP_001305963.1:n.939+4A>C