Canonical Allele Identifier: CA2665308387

Linked Data

gnomAD v4: 3-43690912-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.43690912A>G , CM000665.2:g.43690912A>G GRCh38
NC_000003.11:g.43732404A>G , CM000665.1:g.43732404A>G GRCh37
NC_000003.10:g.43707408A>G NCBI36
NG_007090.3:g.5030A>G
NG_007090.5:g.5043A>G
NG_028216.2:g.5683T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000458276.7:c.-81A>G (ABHD5) ENSP00000390849.3:n.-81A>G
ENST00000643140.1:c.-81A>G (ABHD5) ENSP00000495588.1:n.-81A>G
ENST00000643500.1:c.-81A>G (ABHD5) ENSP00000494735.1:n.-81A>G
ENST00000643520.1:n.95+710A>G (ABHD5)
ENST00000649763.1:c.-81A>G (ABHD5) ENSP00000497701.1:n.-81A>G
ENST00000413397.5:c.-12+605T>C (ANO10) ENSP00000399103.1:n.-12+605T>C
ENST00000439141.5:c.-106+605T>C (ANO10) ENSP00000397360.1:n.-106+605T>C
ENST00000456453.5:c.-77+202A>G (ABHD5) ENSP00000391582.1:n.-77+202A>G
ENST00000458276.6:c.-81A>G (ABHD5) ENSP00000390849.2:n.-81A>G
ENST00000486764.1:n.21A>G (ABHD5)
ENST00000495772.1:n.56+605T>C (ANO10)
NM_016006.4:c.-81A>G (ABHD5) NP_057090.2:n.-81A>G
XM_011533883.1:c.-12+605T>C (ANO10) XP_011532185.1:n.-12+605T>C
NM_001346468.1:c.-12+605T>C (ANO10) NP_001333397.1:n.-12+605T>C
NM_001346469.1:c.-12+605T>C (ANO10) NP_001333398.1:n.-12+605T>C
NM_001355186.1:c.-81A>G (ABHD5) NP_001342115.1:n.-81A>G
NM_001365650.1:c.-81A>G (ABHD5) NP_001352579.1:n.-81A>G
NM_016006.5:c.-81A>G (ABHD5) NP_057090.2:n.-81A>G
NR_158560.1:n.43A>G (ABHD5)
XM_017006717.2:c.-12+605T>C (ANO10) XP_016862206.1:n.-12+605T>C
NM_001346468.2:c.-12+605T>C (ANO10) NP_001333397.1:n.-12+605T>C
NM_001346469.2:c.-12+605T>C (ANO10) NP_001333398.1:n.-12+605T>C