Canonical Allele Identifier: CA2677233009

Linked Data

gnomAD v4: 6-7541629-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7541629C>T , CM000668.2:g.7541629C>T GRCh38
NC_000006.11:g.7541862C>T , CM000668.1:g.7541862C>T GRCh37
NC_000006.10:g.7486861C>T NCBI36
NG_008803.1:g.4993C>T , LRG_423:g.4993C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000710359.1:c.-287C>T (DSP) ENSP00000518230.1:n.-287C>T
ENST00000379802.7:c.-287C>T (DSP) ENSP00000369129.3:n.-287C>T
ENST00000418664.2:c.-287C>T (DSP) ENSP00000396591.2:n.-287C>T
XM_011514323.1:c.-287C>T (DSP) XP_011512625.1:n.-287C>T
XR_241971.2:n.269-576G>A (DSP-AS1)
NM_001008844.2:c.-287C>T (DSP) NP_001008844.1:n.-287C>T
NM_001319034.1:c.-287C>T (DSP) NP_001305963.1:n.-287C>T
NM_004415.3:c.-287C>T (DSP) NP_004406.2:n.-287C>T
XR_241970.4:n.98G>A (DSP-AS1)
XR_241971.3:n.270-576G>A (DSP-AS1)