Canonical Allele Identifier: CA047196
Community Standard Title: NM_004415.4(DSP):c.6262G>T (p.Ala2088Ser)
Gene: DSP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7583524G>T , CM000668.2:g.7583524G>T GRCh38
NC_000006.11:g.7583757G>T , CM000668.1:g.7583757G>T GRCh37
NC_000006.10:g.7528756G>T NCBI36
NG_008803.1:g.46888G>T , LRG_423:g.46888G>T

Transcript Alleles

HGVS Amino-acid Change
NM_004415.4:c.6262G>T MANE Select NP_004406.2:p.Ala2088Ser
ENST00000379802.8:c.6262G>T MANE Select ENSP00000369129.3:p.Ala2088Ser
NM_001008844.1:c.4465G>T NP_001008844.1:p.Ala1489Ser
NM_001008844.2:c.4465G>T NP_001008844.1:p.Ala1489Ser
NM_001008844.3:c.4465G>T NP_001008844.1:p.Ala1489Ser
NM_001319034.1:c.4933G>T NP_001305963.1:p.Ala1645Ser
NM_001319034.2:c.4933G>T NP_001305963.1:p.Ala1645Ser
NM_004415.2:c.6262G>T , LRG_423t1:c.6262G>T NP_004406.2:p.Ala2088Ser
NM_004415.3:c.6262G>T NP_004406.2:p.Ala2088Ser
ENST00000379802.7:c.6262G>T ENSP00000369129.3:p.Ala2088Ser
ENST00000418664.2:c.4465G>T ENSP00000396591.2:p.Ala1489Ser
ENST00000710359.1:c.4933G>T ENSP00000518230.1:p.Ala1645Ser
XM_011514323.1:c.4933G>T XP_011512625.1:p.Ala1645Ser