Canonical Allele Identifier: CA048005

Gene: DSP

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7583828G>A , CM000668.2:g.7583828G>A	GRCh38
NC_000006.11:g.7584061G>A , CM000668.1:g.7584061G>A	GRCh37
NC_000006.10:g.7529060G>A	NCBI36
NG_008803.1:g.47192G>A , LRG_423:g.47192G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004415.4:c.6566G>A MANE Select	NP_004406.2:p.Arg2189Gln
ENST00000379802.8:c.6566G>A MANE Select	ENSP00000369129.3:p.Arg2189Gln
NM_001008844.1:c.4769G>A	NP_001008844.1:p.Arg1590Gln
NM_001008844.2:c.4769G>A	NP_001008844.1:p.Arg1590Gln
NM_001008844.3:c.4769G>A	NP_001008844.1:p.Arg1590Gln
NM_001319034.1:c.5237G>A	NP_001305963.1:p.Arg1746Gln
NM_001319034.2:c.5237G>A	NP_001305963.1:p.Arg1746Gln
NM_004415.2:c.6566G>A , LRG_423t1:c.6566G>A	NP_004406.2:p.Arg2189Gln
NM_004415.3:c.6566G>A	NP_004406.2:p.Arg2189Gln
ENST00000379802.7:c.6566G>A	ENSP00000369129.3:p.Arg2189Gln
ENST00000418664.2:c.4769G>A	ENSP00000396591.2:p.Arg1590Gln
ENST00000710359.1:c.5237G>A	ENSP00000518230.1:p.Arg1746Gln
XM_011514323.1:c.5237G>A	XP_011512625.1:p.Arg1746Gln