Canonical Allele Identifier: CA1047341374

Gene: ABHD5 ANO10

Linked Data

• dbSNP Id: rs2084357474
• gnomAD v3: 3-43690917-C-T
• gnomAD v4: 3-43690917-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43690917C>T , CM000665.2:g.43690917C>T	GRCh38
NC_000003.11:g.43732409C>T , CM000665.1:g.43732409C>T	GRCh37
NC_000003.10:g.43707413C>T	NCBI36
NG_007090.3:g.5035C>T
NG_007090.5:g.5048C>T
NG_028216.2:g.5678G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000458276.7:c.-76C>T (ABHD5)	ENSP00000390849.3:n.-76C>T
ENST00000643140.1:c.-76C>T (ABHD5)	ENSP00000495588.1:n.-76C>T
ENST00000643500.1:c.-76C>T (ABHD5)	ENSP00000494735.1:n.-76C>T
ENST00000643520.1:n.95+715C>T (ABHD5)
ENST00000649763.1:c.-76C>T (ABHD5)	ENSP00000497701.1:n.-76C>T
ENST00000413397.5:c.-12+600G>A (ANO10)	ENSP00000399103.1:n.-12+600G>A
ENST00000439141.5:c.-106+600G>A (ANO10)	ENSP00000397360.1:n.-106+600G>A
ENST00000456453.5:c.-77+207C>T (ABHD5)	ENSP00000391582.1:n.-77+207C>T
ENST00000458276.6:c.-76C>T (ABHD5)	ENSP00000390849.2:n.-76C>T
ENST00000486764.1:n.26C>T (ABHD5)
ENST00000495772.1:n.56+600G>A (ANO10)
NM_016006.4:c.-76C>T (ABHD5)	NP_057090.2:n.-76C>T
XM_011533883.1:c.-12+600G>A (ANO10)	XP_011532185.1:n.-12+600G>A
NM_001346468.1:c.-12+600G>A (ANO10)	NP_001333397.1:n.-12+600G>A
NM_001346469.1:c.-12+600G>A (ANO10)	NP_001333398.1:n.-12+600G>A
NM_001355186.1:c.-76C>T (ABHD5)	NP_001342115.1:n.-76C>T
NM_001365650.1:c.-76C>T (ABHD5)	NP_001352579.1:n.-76C>T
NM_016006.5:c.-76C>T (ABHD5)	NP_057090.2:n.-76C>T
NR_158560.1:n.48C>T (ABHD5)
XM_017006717.2:c.-12+600G>A (ANO10)	XP_016862206.1:n.-12+600G>A
NM_001346468.2:c.-12+600G>A (ANO10)	NP_001333397.1:n.-12+600G>A
NM_001346469.2:c.-12+600G>A (ANO10)	NP_001333398.1:n.-12+600G>A