Canonical Allele Identifier: CA448715899
Community Standard Title: NM_004415.4(DSP):c.6606A>G (p.Ser2202=)
Gene: DSP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7583868A>G , CM000668.2:g.7583868A>G GRCh38
NC_000006.11:g.7584101A>G , CM000668.1:g.7584101A>G GRCh37
NC_000006.10:g.7529100A>G NCBI36
NG_008803.1:g.47232A>G , LRG_423:g.47232A>G

Transcript Alleles

HGVS Amino-acid Change
NM_004415.4:c.6606A>G MANE Select NP_004406.2:p.Ser2202=
ENST00000379802.8:c.6606A>G MANE Select ENSP00000369129.3:p.Ser2202=
NM_001008844.1:c.4809A>G NP_001008844.1:p.Ser1603=
NM_001008844.2:c.4809A>G NP_001008844.1:p.Ser1603=
NM_001008844.3:c.4809A>G NP_001008844.1:p.Ser1603=
NM_001319034.1:c.5277A>G NP_001305963.1:p.Ser1759=
NM_001319034.2:c.5277A>G NP_001305963.1:p.Ser1759=
NM_004415.2:c.6606A>G , LRG_423t1:c.6606A>G NP_004406.2:p.Ser2202=
NM_004415.3:c.6606A>G NP_004406.2:p.Ser2202=
ENST00000379802.7:c.6606A>G ENSP00000369129.3:p.Ser2202=
ENST00000418664.2:c.4809A>G ENSP00000396591.2:p.Ser1603=
ENST00000710359.1:c.5277A>G ENSP00000518230.1:p.Ser1759=
XM_011514323.1:c.5277A>G XP_011512625.1:p.Ser1759=