Canonical Allele Identifier: CA74390310
Community Standard Title: NC_000003.12:g.43690751G>A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.43690751G>A , CM000665.2:g.43690751G>A GRCh38
NC_000003.11:g.43732243G>A , CM000665.1:g.43732243G>A GRCh37
NC_000003.10:g.43707247G>A NCBI36
NG_007090.3:g.4869G>A
NG_007090.5:g.4882G>A
NG_028216.2:g.5844C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001346468.1:c.-12+766C>T (ANO10) NP_001333397.1:n.-12+766C>T
NM_001346468.2:c.-12+766C>T (ANO10) NP_001333397.1:n.-12+766C>T
NM_001346469.1:c.-12+766C>T (ANO10) NP_001333398.1:n.-12+766C>T
NM_001346469.2:c.-12+766C>T (ANO10) NP_001333398.1:n.-12+766C>T
ENST00000413397.5:c.-12+766C>T (ANO10) ENSP00000399103.1:n.-12+766C>T
ENST00000428831.1:c.-242C>T (ANO10) ENSP00000406712.1:n.-242C>T
ENST00000436073.1:c.-313C>T (ANO10) ENSP00000404988.1:n.-313C>T
ENST00000439141.5:c.-106+766C>T (ANO10) ENSP00000397360.1:n.-106+766C>T
ENST00000456453.5:c.-77+41G>A (ABHD5) ENSP00000391582.1:n.-77+41G>A
ENST00000495772.1:n.56+766C>T (ANO10)
ENST00000643520.1:n.95+549G>A (ABHD5)
XM_011533883.1:c.-12+766C>T (ANO10) XP_011532185.1:n.-12+766C>T
XM_017006717.2:c.-12+766C>T (ANO10) XP_016862206.1:n.-12+766C>T