Canonical Allele Identifier: CA2578524019

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7541898T>G , CM000668.2:g.7541898T>G GRCh38
NC_000006.11:g.7542131T>G , CM000668.1:g.7542131T>G GRCh37
NC_000006.10:g.7487130T>G NCBI36
NG_008803.1:g.5262T>G , LRG_423:g.5262T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000683682.2:c.-18T>G (DSP) ENSP00000508162.2:n.-18T>G
ENST00000710359.1:c.-18T>G (DSP) ENSP00000518230.1:n.-18T>G
ENST00000379802.8:c.-18T>G (DSP) MANE Select ENSP00000369129.3:n.-18T>G
ENST00000379802.7:c.-18T>G (DSP) ENSP00000369129.3:n.-18T>G
ENST00000418664.2:c.-18T>G (DSP) ENSP00000396591.2:n.-18T>G
NM_001008844.1:c.-18T>G (DSP) NP_001008844.1:n.-18T>G
NM_004415.2:c.-18T>G , LRG_423t1:c.-18T>G (DSP) NP_004406.2:n.-18T>G
XM_011514323.1:c.-18T>G (DSP) XP_011512625.1:n.-18T>G
XR_241971.2:n.269-845A>C (DSP-AS1)
NM_001008844.2:c.-18T>G (DSP) NP_001008844.1:n.-18T>G
NM_001319034.1:c.-18T>G (DSP) NP_001305963.1:n.-18T>G
NM_004415.3:c.-18T>G (DSP) NP_004406.2:n.-18T>G
XR_241971.3:n.270-845A>C (DSP-AS1)
NM_004415.4:c.-18T>G (DSP) MANE Select NP_004406.2:n.-18T>G
NM_001008844.3:c.-18T>G (DSP) NP_001008844.1:n.-18T>G
NM_001319034.2:c.-18T>G (DSP) NP_001305963.1:n.-18T>G