Canonical Allele Identifier: CA1085714020

Linked Data

dbSNP Id: rs1008413518
gnomAD v3: 6-7541640-A-C
gnomAD v4: 6-7541640-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7541640A>C , CM000668.2:g.7541640A>C GRCh38
NC_000006.11:g.7541873A>C , CM000668.1:g.7541873A>C GRCh37
NC_000006.10:g.7486872A>C NCBI36
NG_008803.1:g.5004A>C , LRG_423:g.5004A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000710359.1:c.-276A>C (DSP) ENSP00000518230.1:n.-276A>C
ENST00000379802.7:c.-276A>C (DSP) ENSP00000369129.3:n.-276A>C
ENST00000418664.2:c.-276A>C (DSP) ENSP00000396591.2:n.-276A>C
NM_001008844.1:c.-276A>C (DSP) NP_001008844.1:n.-276A>C
NM_004415.2:c.-276A>C , LRG_423t1:c.-276A>C (DSP) NP_004406.2:n.-276A>C
XM_011514323.1:c.-276A>C (DSP) XP_011512625.1:n.-276A>C
XR_241971.2:n.269-587T>G (DSP-AS1)
NM_001008844.2:c.-276A>C (DSP) NP_001008844.1:n.-276A>C
NM_001319034.1:c.-276A>C (DSP) NP_001305963.1:n.-276A>C
NM_004415.3:c.-276A>C (DSP) NP_004406.2:n.-276A>C
XR_241970.4:n.87T>G (DSP-AS1)
XR_241971.3:n.270-587T>G (DSP-AS1)