Canonical Allele Identifier: CA828085547

Linked Data

dbSNP Id: rs1267544412
gnomAD v4: 6-7541628-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7541628G>C , CM000668.2:g.7541628G>C GRCh38
NC_000006.11:g.7541861G>C , CM000668.1:g.7541861G>C GRCh37
NC_000006.10:g.7486860G>C NCBI36
NG_008803.1:g.4992G>C , LRG_423:g.4992G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000710359.1:c.-288G>C (DSP) ENSP00000518230.1:n.-288G>C
ENST00000379802.7:c.-288G>C (DSP) ENSP00000369129.3:n.-288G>C
ENST00000418664.2:c.-288G>C (DSP) ENSP00000396591.2:n.-288G>C
XM_011514323.1:c.-288G>C (DSP) XP_011512625.1:n.-288G>C
XR_241971.2:n.269-575C>G (DSP-AS1)
NM_001008844.2:c.-288G>C (DSP) NP_001008844.1:n.-288G>C
NM_001319034.1:c.-288G>C (DSP) NP_001305963.1:n.-288G>C
NM_004415.3:c.-288G>C (DSP) NP_004406.2:n.-288G>C
XR_241970.4:n.99C>G (DSP-AS1)
XR_241971.3:n.270-575C>G (DSP-AS1)