Canonical Allele Identifier: CA2596455437

Gene: ABHD5 ANO10

Linked Data

• dbSNP Id: rs2149587193
• gnomAD v3: 3-43690915-G-C
• gnomAD v4: 3-43690915-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43690915G>C , CM000665.2:g.43690915G>C	GRCh38
NC_000003.11:g.43732407G>C , CM000665.1:g.43732407G>C	GRCh37
NC_000003.10:g.43707411G>C	NCBI36
NG_007090.3:g.5033G>C
NG_007090.5:g.5046G>C
NG_028216.2:g.5680C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000458276.7:c.-78G>C (ABHD5)	ENSP00000390849.3:n.-78G>C
ENST00000643140.1:c.-78G>C (ABHD5)	ENSP00000495588.1:n.-78G>C
ENST00000643500.1:c.-78G>C (ABHD5)	ENSP00000494735.1:n.-78G>C
ENST00000643520.1:n.95+713G>C (ABHD5)
ENST00000649763.1:c.-78G>C (ABHD5)	ENSP00000497701.1:n.-78G>C
ENST00000413397.5:c.-12+602C>G (ANO10)	ENSP00000399103.1:n.-12+602C>G
ENST00000439141.5:c.-106+602C>G (ANO10)	ENSP00000397360.1:n.-106+602C>G
ENST00000456453.5:c.-77+205G>C (ABHD5)	ENSP00000391582.1:n.-77+205G>C
ENST00000458276.6:c.-78G>C (ABHD5)	ENSP00000390849.2:n.-78G>C
ENST00000486764.1:n.24G>C (ABHD5)
ENST00000495772.1:n.56+602C>G (ANO10)
NM_016006.4:c.-78G>C (ABHD5)	NP_057090.2:n.-78G>C
XM_011533883.1:c.-12+602C>G (ANO10)	XP_011532185.1:n.-12+602C>G
NM_001346468.1:c.-12+602C>G (ANO10)	NP_001333397.1:n.-12+602C>G
NM_001346469.1:c.-12+602C>G (ANO10)	NP_001333398.1:n.-12+602C>G
NM_001355186.1:c.-78G>C (ABHD5)	NP_001342115.1:n.-78G>C
NM_001365650.1:c.-78G>C (ABHD5)	NP_001352579.1:n.-78G>C
NM_016006.5:c.-78G>C (ABHD5)	NP_057090.2:n.-78G>C
NR_158560.1:n.46G>C (ABHD5)
XM_017006717.2:c.-12+602C>G (ANO10)	XP_016862206.1:n.-12+602C>G
NM_001346468.2:c.-12+602C>G (ANO10)	NP_001333397.1:n.-12+602C>G
NM_001346469.2:c.-12+602C>G (ANO10)	NP_001333398.1:n.-12+602C>G