Canonical Allele Identifier: CA2710969543

Linked Data

dbSNP Id: rs2113627428

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7541627C>A , CM000668.2:g.7541627C>A GRCh38
NC_000006.11:g.7541860C>A , CM000668.1:g.7541860C>A GRCh37
NC_000006.10:g.7486859C>A NCBI36
NG_008803.1:g.4991C>A , LRG_423:g.4991C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000710359.1:c.-289C>A (DSP) ENSP00000518230.1:n.-289C>A
ENST00000379802.7:c.-289C>A (DSP) ENSP00000369129.3:n.-289C>A
ENST00000418664.2:c.-289C>A (DSP) ENSP00000396591.2:n.-289C>A
XM_011514323.1:c.-289C>A (DSP) XP_011512625.1:n.-289C>A
XR_241971.2:n.269-574G>T (DSP-AS1)
NM_001008844.2:c.-289C>A (DSP) NP_001008844.1:n.-289C>A
NM_001319034.1:c.-289C>A (DSP) NP_001305963.1:n.-289C>A
NM_004415.3:c.-289C>A (DSP) NP_004406.2:n.-289C>A
XR_241970.4:n.100G>T (DSP-AS1)
XR_241971.3:n.270-574G>T (DSP-AS1)