Canonical Allele Identifier: CA448716409

Gene: DSP

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7584808A>C , CM000668.2:g.7584808A>C	GRCh38
NC_000006.11:g.7585041A>C , CM000668.1:g.7585041A>C	GRCh37
NC_000006.10:g.7530040A>C	NCBI36
NG_008803.1:g.48172A>C , LRG_423:g.48172A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_004415.4:c.7546A>C MANE Select	NP_004406.2:p.Arg2516=
ENST00000379802.8:c.7546A>C MANE Select	ENSP00000369129.3:p.Arg2516=
NM_001008844.1:c.5749A>C	NP_001008844.1:p.Arg1917=
NM_001008844.2:c.5749A>C	NP_001008844.1:p.Arg1917=
NM_001008844.3:c.5749A>C	NP_001008844.1:p.Arg1917=
NM_001319034.1:c.6217A>C	NP_001305963.1:p.Arg2073=
NM_001319034.2:c.6217A>C	NP_001305963.1:p.Arg2073=
NM_004415.2:c.7546A>C , LRG_423t1:c.7546A>C	NP_004406.2:p.Arg2516=
NM_004415.3:c.7546A>C	NP_004406.2:p.Arg2516=
ENST00000379802.7:c.7546A>C	ENSP00000369129.3:p.Arg2516=
ENST00000418664.2:c.5749A>C	ENSP00000396591.2:p.Arg1917=
ENST00000710359.1:c.6217A>C	ENSP00000518230.1:p.Arg2073=
XM_011514323.1:c.6217A>C	XP_011512625.1:p.Arg2073=