Canonical Allele Identifier: CA362675780

Linked Data

ClinVar Variation Id: 1388757
ClinVar RCV Id: RCV001886827
dbSNP Id: rs2113628871

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7542009A>G , CM000668.2:g.7542009A>G GRCh38
NC_000006.11:g.7542242A>G , CM000668.1:g.7542242A>G GRCh37
NC_000006.10:g.7487241A>G NCBI36
NG_008803.1:g.5373A>G , LRG_423:g.5373A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000683682.2:c.94A>G (DSP) ENSP00000508162.2:p.Ser32Gly
ENST00000710359.1:c.94A>G (DSP) ENSP00000518230.1:p.Ser32Gly
ENST00000379802.8:c.94A>G (DSP) MANE Select ENSP00000369129.3:p.Ser32Gly
ENST00000379802.7:c.94A>G (DSP) ENSP00000369129.3:p.Ser32Gly
ENST00000418664.2:c.94A>G (DSP) ENSP00000396591.2:p.Ser32Gly
NM_001008844.1:c.94A>G (DSP) NP_001008844.1:p.Ser32Gly
NM_004415.2:c.94A>G , LRG_423t1:c.94A>G (DSP) NP_004406.2:p.Ser32Gly
XM_011514323.1:c.94A>G (DSP) XP_011512625.1:p.Ser32Gly
XR_241971.2:n.268+762T>C (DSP-AS1)
NM_001008844.2:c.94A>G (DSP) NP_001008844.1:p.Ser32Gly
NM_001319034.1:c.94A>G (DSP) NP_001305963.1:p.Ser32Gly
NM_004415.3:c.94A>G (DSP) NP_004406.2:p.Ser32Gly
XR_241971.3:n.269+762T>C (DSP-AS1)
NM_004415.4:c.94A>G (DSP) MANE Select NP_004406.2:p.Ser32Gly
NM_001008844.3:c.94A>G (DSP) NP_001008844.1:p.Ser32Gly
NM_001319034.2:c.94A>G (DSP) NP_001305963.1:p.Ser32Gly