Canonical Allele Identifier: CA362674554
Community Standard Title: NM_004415.4(DSP):c.895A>C (p.Ser299Arg)
Gene: DSP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7565476A>C , CM000668.2:g.7565476A>C GRCh38
NC_000006.11:g.7565709A>C , CM000668.1:g.7565709A>C GRCh37
NC_000006.10:g.7510708A>C NCBI36
NG_008803.1:g.28840A>C , LRG_423:g.28840A>C

Transcript Alleles

HGVS Amino-acid Change
NM_004415.4:c.895A>C MANE Select NP_004406.2:p.Ser299Arg
ENST00000379802.8:c.895A>C MANE Select ENSP00000369129.3:p.Ser299Arg
NM_001008844.1:c.895A>C NP_001008844.1:p.Ser299Arg
NM_001008844.2:c.895A>C NP_001008844.1:p.Ser299Arg
NM_001008844.3:c.895A>C NP_001008844.1:p.Ser299Arg
NM_001319034.1:c.895A>C NP_001305963.1:p.Ser299Arg
NM_001319034.2:c.895A>C NP_001305963.1:p.Ser299Arg
NM_004415.2:c.895A>C , LRG_423t1:c.895A>C NP_004406.2:p.Ser299Arg
NM_004415.3:c.895A>C NP_004406.2:p.Ser299Arg
ENST00000379802.7:c.895A>C ENSP00000369129.3:p.Ser299Arg
ENST00000418664.2:c.895A>C ENSP00000396591.2:p.Ser299Arg
ENST00000506617.1:n.413A>C
ENST00000682228.1:n.219A>C
ENST00000710359.1:c.895A>C ENSP00000518230.1:p.Ser299Arg
XM_011514323.1:c.895A>C XP_011512625.1:p.Ser299Arg