Canonical Allele Identifier: CA448717121
Gene: DSP HGNC NCBI

Linked Data

dbSNP Id: rs756256863

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7585626C>G , CM000668.2:g.7585626C>G GRCh38
NC_000006.11:g.7585859C>G , CM000668.1:g.7585859C>G GRCh37
NC_000006.10:g.7530858C>G NCBI36
NG_008803.1:g.48990C>G , LRG_423:g.48990C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000710359.1:c.7035C>G ENSP00000518230.1:p.Ala2345=
ENST00000379802.8:c.8364C>G MANE Select ENSP00000369129.3:p.Ala2788=
ENST00000379802.7:c.8364C>G ENSP00000369129.3:p.Ala2788=
ENST00000418664.2:c.6567C>G ENSP00000396591.2:p.Ala2189=
NM_001008844.1:c.6567C>G NP_001008844.1:p.Ala2189=
NM_004415.2:c.8364C>G , LRG_423t1:c.8364C>G NP_004406.2:p.Ala2788=
XM_011514323.1:c.7035C>G XP_011512625.1:p.Ala2345=
NM_001008844.2:c.6567C>G NP_001008844.1:p.Ala2189=
NM_001319034.1:c.7035C>G NP_001305963.1:p.Ala2345=
NM_004415.3:c.8364C>G NP_004406.2:p.Ala2788=
NM_004415.4:c.8364C>G MANE Select NP_004406.2:p.Ala2788=
NM_001008844.3:c.6567C>G NP_001008844.1:p.Ala2189=
NM_001319034.2:c.7035C>G NP_001305963.1:p.Ala2345=