Canonical Allele Identifier: CA044445
Community Standard Title: NM_004415.4(DSP):c.5261G>A (p.Ser1754Asn)
Gene: DSP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7581451G>A , CM000668.2:g.7581451G>A GRCh38
NC_000006.11:g.7581684G>A , CM000668.1:g.7581684G>A GRCh37
NC_000006.10:g.7526683G>A NCBI36
NG_008803.1:g.44815G>A , LRG_423:g.44815G>A

Transcript Alleles

HGVS Amino-acid Change
NM_004415.4:c.5261G>A MANE Select NP_004406.2:p.Ser1754Asn
ENST00000379802.8:c.5261G>A MANE Select ENSP00000369129.3:p.Ser1754Asn
NM_001008844.1:c.3583-1191G>A NP_001008844.1:n.3583-1191G>A
NM_001008844.2:c.3583-1191G>A NP_001008844.1:n.3583-1191G>A
NM_001008844.3:c.3583-1191G>A NP_001008844.1:n.3583-1191G>A
NM_001319034.1:c.4051-1191G>A NP_001305963.1:n.4051-1191G>A
NM_001319034.2:c.4051-1191G>A NP_001305963.1:n.4051-1191G>A
NM_004415.2:c.5261G>A , LRG_423t1:c.5261G>A NP_004406.2:p.Ser1754Asn
NM_004415.3:c.5261G>A NP_004406.2:p.Ser1754Asn
ENST00000379802.7:c.5261G>A ENSP00000369129.3:p.Ser1754Asn
ENST00000418664.2:c.3583-1191G>A ENSP00000396591.2:n.3583-1191G>A
ENST00000710359.1:c.4051-1191G>A ENSP00000518230.1:n.4051-1191G>A
XM_011514323.1:c.4051-1191G>A XP_011512625.1:n.4051-1191G>A