Canonical Allele Identifier: CA2577566099

Linked Data

gnomAD v4: 3-43690919-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.43690919C>A , CM000665.2:g.43690919C>A GRCh38
NC_000003.11:g.43732411C>A , CM000665.1:g.43732411C>A GRCh37
NC_000003.10:g.43707415C>A NCBI36
NG_007090.3:g.5037C>A
NG_007090.5:g.5050C>A
NG_028216.2:g.5676G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000458276.7:c.-74C>A (ABHD5) ENSP00000390849.3:n.-74C>A
ENST00000643140.1:c.-74C>A (ABHD5) ENSP00000495588.1:n.-74C>A
ENST00000643500.1:c.-74C>A (ABHD5) ENSP00000494735.1:n.-74C>A
ENST00000643520.1:n.95+717C>A (ABHD5)
ENST00000649763.1:c.-74C>A (ABHD5) ENSP00000497701.1:n.-74C>A
ENST00000413397.5:c.-12+598G>T (ANO10) ENSP00000399103.1:n.-12+598G>T
ENST00000439141.5:c.-106+598G>T (ANO10) ENSP00000397360.1:n.-106+598G>T
ENST00000456453.5:c.-77+209C>A (ABHD5) ENSP00000391582.1:n.-77+209C>A
ENST00000458276.6:c.-74C>A (ABHD5) ENSP00000390849.2:n.-74C>A
ENST00000486764.1:n.28C>A (ABHD5)
ENST00000495772.1:n.56+598G>T (ANO10)
NM_016006.4:c.-74C>A (ABHD5) NP_057090.2:n.-74C>A
XM_011533883.1:c.-12+598G>T (ANO10) XP_011532185.1:n.-12+598G>T
NM_001346468.1:c.-12+598G>T (ANO10) NP_001333397.1:n.-12+598G>T
NM_001346469.1:c.-12+598G>T (ANO10) NP_001333398.1:n.-12+598G>T
NM_001355186.1:c.-74C>A (ABHD5) NP_001342115.1:n.-74C>A
NM_001365650.1:c.-74C>A (ABHD5) NP_001352579.1:n.-74C>A
NM_016006.5:c.-74C>A (ABHD5) NP_057090.2:n.-74C>A
NR_158560.1:n.50C>A (ABHD5)
XM_017006717.2:c.-12+598G>T (ANO10) XP_016862206.1:n.-12+598G>T
NM_001346468.2:c.-12+598G>T (ANO10) NP_001333397.1:n.-12+598G>T
NM_001346469.2:c.-12+598G>T (ANO10) NP_001333398.1:n.-12+598G>T