Canonical Allele Identifier: CA1085714017

Linked Data

dbSNP Id: rs1757972395
gnomAD v3: 6-7541638-C-T
gnomAD v4: 6-7541638-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7541638C>T , CM000668.2:g.7541638C>T GRCh38
NC_000006.11:g.7541871C>T , CM000668.1:g.7541871C>T GRCh37
NC_000006.10:g.7486870C>T NCBI36
NG_008803.1:g.5002C>T , LRG_423:g.5002C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000710359.1:c.-278C>T (DSP) ENSP00000518230.1:n.-278C>T
ENST00000379802.7:c.-278C>T (DSP) ENSP00000369129.3:n.-278C>T
ENST00000418664.2:c.-278C>T (DSP) ENSP00000396591.2:n.-278C>T
NM_001008844.1:c.-278C>T (DSP) NP_001008844.1:n.-278C>T
NM_004415.2:c.-278C>T , LRG_423t1:c.-278C>T (DSP) NP_004406.2:n.-278C>T
XM_011514323.1:c.-278C>T (DSP) XP_011512625.1:n.-278C>T
XR_241971.2:n.269-585G>A (DSP-AS1)
NM_001008844.2:c.-278C>T (DSP) NP_001008844.1:n.-278C>T
NM_001319034.1:c.-278C>T (DSP) NP_001305963.1:n.-278C>T
NM_004415.3:c.-278C>T (DSP) NP_004406.2:n.-278C>T
XR_241970.4:n.89G>A (DSP-AS1)
XR_241971.3:n.270-585G>A (DSP-AS1)