Canonical Allele Identifier: CA352347838

Gene: ABHD5

Linked Data

• gnomAD v4: 3-43717849-A-C
• MyVariant Identifiers: chr3:g.43759341A>C (hg19) ; chr3:g.43717849A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43717849A>C , CM000665.2:g.43717849A>C	GRCh38
NC_000003.11:g.43759341A>C , CM000665.1:g.43759341A>C	GRCh37
NC_000003.10:g.43734345A>C	NCBI36
NG_007090.3:g.31967A>C
NG_007090.5:g.31980A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413300.2:c.351A>C
ENST00000454293.2:c.829A>C	ENSP00000412014.2:p.Lys277Gln
ENST00000458276.7:c.774-594A>C	ENSP00000390849.3:n.774-594A>C
ENST00000463153.2:c.179A>C
ENST00000642351.1:c.829A>C	ENSP00000494478.1:p.Lys277Gln
ENST00000643140.1:c.*314A>C	ENSP00000495588.1:n.*314A>C
ENST00000643477.1:c.*413A>C	ENSP00000496220.1:n.*413A>C
ENST00000643500.1:c.*153A>C	ENSP00000494735.1:n.*153A>C
ENST00000643520.1:n.1118A>C
ENST00000644371.2:c.952A>C MANE Select	ENSP00000495778.1:p.Lys318Gln
ENST00000646378.1:c.*1002A>C	ENSP00000495826.1:n.*1002A>C
ENST00000646799.1:c.*248-594A>C	ENSP00000494829.1:n.*248-594A>C
ENST00000649763.1:c.952A>C	ENSP00000497701.1:p.Lys318Gln
ENST00000413300.1:c.353A>C	ENSP00000392159.1:p.Glu118Ala
ENST00000458276.6:c.952A>C	ENSP00000390849.2:p.Lys318Gln
ENST00000463153.1:n.182A>C
NM_016006.4:c.952A>C	NP_057090.2:p.Lys318Gln
XM_011533779.1:c.829A>C	XP_011532081.1:p.Lys277Gln
XM_011533780.1:c.774-594A>C	XP_011532082.1:n.774-594A>C
XR_940447.1:n.897A>C
NM_001355186.1:c.952A>C	NP_001342115.1:p.Lys318Gln
NM_001365649.1:c.829A>C	NP_001352578.1:p.Lys277Gln
NM_001365650.1:c.774-594A>C	NP_001352579.1:n.774-594A>C
NM_016006.5:c.952A>C	NP_057090.2:p.Lys318Gln
NR_158560.1:n.963A>C
NM_001355186.2:c.952A>C	NP_001342115.1:p.Lys318Gln
NM_016006.6:c.952A>C MANE Select	NP_057090.2:p.Lys318Gln