Canonical Allele Identifier: CA2677233153

Linked Data

gnomAD v4: 6-7541730-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7541730G>T , CM000668.2:g.7541730G>T GRCh38
NC_000006.11:g.7541963G>T , CM000668.1:g.7541963G>T GRCh37
NC_000006.10:g.7486962G>T NCBI36
NG_008803.1:g.5094G>T , LRG_423:g.5094G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000683682.2:c.-186G>T (DSP) ENSP00000508162.2:n.-186G>T
ENST00000710359.1:c.-186G>T (DSP) ENSP00000518230.1:n.-186G>T
ENST00000379802.8:c.-186G>T (DSP) MANE Select ENSP00000369129.3:n.-186G>T
ENST00000379802.7:c.-186G>T (DSP) ENSP00000369129.3:n.-186G>T
ENST00000418664.2:c.-186G>T (DSP) ENSP00000396591.2:n.-186G>T
NM_001008844.1:c.-186G>T (DSP) NP_001008844.1:n.-186G>T
NM_004415.2:c.-186G>T , LRG_423t1:c.-186G>T (DSP) NP_004406.2:n.-186G>T
XM_011514323.1:c.-186G>T (DSP) XP_011512625.1:n.-186G>T
XR_241971.2:n.269-677C>A (DSP-AS1)
NM_001008844.2:c.-186G>T (DSP) NP_001008844.1:n.-186G>T
NM_001319034.1:c.-186G>T (DSP) NP_001305963.1:n.-186G>T
NM_004415.3:c.-186G>T (DSP) NP_004406.2:n.-186G>T
XR_241971.3:n.270-677C>A (DSP-AS1)
NM_004415.4:c.-186G>T (DSP) MANE Select NP_004406.2:n.-186G>T
NM_001008844.3:c.-186G>T (DSP) NP_001008844.1:n.-186G>T
NM_001319034.2:c.-186G>T (DSP) NP_001305963.1:n.-186G>T