Canonical Allele Identifier: CA004694
Community Standard Title: NM_004415.4(DSP):c.7123G>C (p.Gly2375Arg)
Gene: DSP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7584385G>C , CM000668.2:g.7584385G>C GRCh38
NC_000006.11:g.7584618G>C , CM000668.1:g.7584618G>C GRCh37
NC_000006.10:g.7529617G>C NCBI36
NG_008803.1:g.47749G>C , LRG_423:g.47749G>C

Transcript Alleles

HGVS Amino-acid Change
NM_004415.4:c.7123G>C MANE Select NP_004406.2:p.Gly2375Arg
ENST00000379802.8:c.7123G>C MANE Select ENSP00000369129.3:p.Gly2375Arg
NM_001008844.1:c.5326G>C NP_001008844.1:p.Gly1776Arg
NM_001008844.2:c.5326G>C NP_001008844.1:p.Gly1776Arg
NM_001008844.3:c.5326G>C NP_001008844.1:p.Gly1776Arg
NM_001319034.1:c.5794G>C NP_001305963.1:p.Gly1932Arg
NM_001319034.2:c.5794G>C NP_001305963.1:p.Gly1932Arg
NM_004415.2:c.7123G>C , LRG_423t1:c.7123G>C NP_004406.2:p.Gly2375Arg
NM_004415.3:c.7123G>C NP_004406.2:p.Gly2375Arg
ENST00000379802.7:c.7123G>C ENSP00000369129.3:p.Gly2375Arg
ENST00000418664.2:c.5326G>C ENSP00000396591.2:p.Gly1776Arg
ENST00000710359.1:c.5794G>C ENSP00000518230.1:p.Gly1932Arg
XM_011514323.1:c.5794G>C XP_011512625.1:p.Gly1932Arg