Canonical Allele Identifier: CA448716927
Gene: DSP HGNC NCBI

Linked Data

dbSNP Id: rs2113703620
MyVariant Identifiers: chr6:g.7585412G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7585179G>A , CM000668.2:g.7585179G>A GRCh38
NC_000006.11:g.7585412G>A , CM000668.1:g.7585412G>A GRCh37
NC_000006.10:g.7530411G>A NCBI36
NG_008803.1:g.48543G>A , LRG_423:g.48543G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000710359.1:c.6588G>A ENSP00000518230.1:p.Arg2196=
ENST00000379802.8:c.7917G>A MANE Select ENSP00000369129.3:p.Arg2639=
ENST00000379802.7:c.7917G>A ENSP00000369129.3:p.Arg2639=
ENST00000418664.2:c.6120G>A ENSP00000396591.2:p.Arg2040=
NM_001008844.1:c.6120G>A NP_001008844.1:p.Arg2040=
NM_004415.2:c.7917G>A , LRG_423t1:c.7917G>A NP_004406.2:p.Arg2639=
XM_011514323.1:c.6588G>A XP_011512625.1:p.Arg2196=
NM_001008844.2:c.6120G>A NP_001008844.1:p.Arg2040=
NM_001319034.1:c.6588G>A NP_001305963.1:p.Arg2196=
NM_004415.3:c.7917G>A NP_004406.2:p.Arg2639=
NM_004415.4:c.7917G>A MANE Select NP_004406.2:p.Arg2639=
NM_001008844.3:c.6120G>A NP_001008844.1:p.Arg2040=
NM_001319034.2:c.6588G>A NP_001305963.1:p.Arg2196=