Canonical Allele Identifier: CA362674068
Gene: DSP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7565386C>A , CM000668.2:g.7565386C>A GRCh38
NC_000006.11:g.7565619C>A , CM000668.1:g.7565619C>A GRCh37
NC_000006.10:g.7510618C>A NCBI36
NG_008803.1:g.28750C>A , LRG_423:g.28750C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000710359.1:c.805C>A ENSP00000518230.1:p.Leu269Met
ENST00000682228.1:n.129C>A
ENST00000379802.8:c.805C>A MANE Select ENSP00000369129.3:p.Leu269Met
ENST00000379802.7:c.805C>A ENSP00000369129.3:p.Leu269Met
ENST00000418664.2:c.805C>A ENSP00000396591.2:p.Leu269Met
ENST00000506617.1:n.323C>A
NM_001008844.1:c.805C>A NP_001008844.1:p.Leu269Met
NM_004415.2:c.805C>A , LRG_423t1:c.805C>A NP_004406.2:p.Leu269Met
XM_011514323.1:c.805C>A XP_011512625.1:p.Leu269Met
NM_001008844.2:c.805C>A NP_001008844.1:p.Leu269Met
NM_001319034.1:c.805C>A NP_001305963.1:p.Leu269Met
NM_004415.3:c.805C>A NP_004406.2:p.Leu269Met
NM_004415.4:c.805C>A MANE Select NP_004406.2:p.Leu269Met
NM_001008844.3:c.805C>A NP_001008844.1:p.Leu269Met
NM_001319034.2:c.805C>A NP_001305963.1:p.Leu269Met