Canonical Allele Identifier: CA2677233018

Linked Data

gnomAD v4: 6-7541636-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7541636G>C , CM000668.2:g.7541636G>C GRCh38
NC_000006.11:g.7541869G>C , CM000668.1:g.7541869G>C GRCh37
NC_000006.10:g.7486868G>C NCBI36
NG_008803.1:g.5000G>C , LRG_423:g.5000G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000710359.1:c.-280G>C (DSP) ENSP00000518230.1:n.-280G>C
ENST00000379802.7:c.-280G>C (DSP) ENSP00000369129.3:n.-280G>C
ENST00000418664.2:c.-280G>C (DSP) ENSP00000396591.2:n.-280G>C
XM_011514323.1:c.-280G>C (DSP) XP_011512625.1:n.-280G>C
XR_241971.2:n.269-583C>G (DSP-AS1)
NM_001008844.2:c.-280G>C (DSP) NP_001008844.1:n.-280G>C
NM_001319034.1:c.-280G>C (DSP) NP_001305963.1:n.-280G>C
NM_004415.3:c.-280G>C (DSP) NP_004406.2:n.-280G>C
XR_241970.4:n.91C>G (DSP-AS1)
XR_241971.3:n.270-583C>G (DSP-AS1)