Canonical Allele Identifier: CA133979966

Linked Data

dbSNP Id: rs1048161643
gnomAD v3: 6-7541908-C-G
gnomAD v4: 6-7541908-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7541908C>G , CM000668.2:g.7541908C>G GRCh38
NC_000006.11:g.7542141C>G , CM000668.1:g.7542141C>G GRCh37
NC_000006.10:g.7487140C>G NCBI36
NG_008803.1:g.5272C>G , LRG_423:g.5272C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000683682.2:c.-8C>G (DSP) ENSP00000508162.2:n.-8C>G
ENST00000710359.1:c.-8C>G (DSP) ENSP00000518230.1:n.-8C>G
ENST00000379802.8:c.-8C>G (DSP) MANE Select ENSP00000369129.3:n.-8C>G
ENST00000379802.7:c.-8C>G (DSP) ENSP00000369129.3:n.-8C>G
ENST00000418664.2:c.-8C>G (DSP) ENSP00000396591.2:n.-8C>G
NM_001008844.1:c.-8C>G (DSP) NP_001008844.1:n.-8C>G
NM_004415.2:c.-8C>G , LRG_423t1:c.-8C>G (DSP) NP_004406.2:n.-8C>G
XM_011514323.1:c.-8C>G (DSP) XP_011512625.1:n.-8C>G
XR_241971.2:n.269-855G>C (DSP-AS1)
NM_001008844.2:c.-8C>G (DSP) NP_001008844.1:n.-8C>G
NM_001319034.1:c.-8C>G (DSP) NP_001305963.1:n.-8C>G
NM_004415.3:c.-8C>G (DSP) NP_004406.2:n.-8C>G
XR_241971.3:n.270-855G>C (DSP-AS1)
NM_004415.4:c.-8C>G (DSP) MANE Select NP_004406.2:n.-8C>G
NM_001008844.3:c.-8C>G (DSP) NP_001008844.1:n.-8C>G
NM_001319034.2:c.-8C>G (DSP) NP_001305963.1:n.-8C>G