Canonical Allele Identifier: CA352347999

Gene: ABHD5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43718488G>C , CM000665.2:g.43718488G>C	GRCh38
NC_000003.11:g.43759980G>C , CM000665.1:g.43759980G>C	GRCh37
NC_000003.10:g.43734984G>C	NCBI36
NG_007090.3:g.32606G>C
NG_007090.5:g.32619G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_016006.6:c.1006G>C MANE Select	NP_057090.2:p.Glu336Gln
ENST00000644371.2:c.1006G>C MANE Select	ENSP00000495778.1:p.Glu336Gln
NM_001355186.1:c.1006G>C	NP_001342115.1:p.Glu336Gln
NM_001355186.2:c.1006G>C	NP_001342115.1:p.Glu336Gln
NM_001365649.1:c.883G>C	NP_001352578.1:p.Glu295Gln
NM_001365650.1:c.819G>C	NP_001352579.1:p.Lys273Asn
NM_016006.4:c.1006G>C	NP_057090.2:p.Glu336Gln
NM_016006.5:c.1006G>C	NP_057090.2:p.Glu336Gln
NR_158560.1:n.1017G>C
ENST00000413300.1:c.407G>C	ENSP00000392159.1:p.Arg136Thr
ENST00000413300.2:c.405G>C
ENST00000454293.2:c.883G>C	ENSP00000412014.2:p.Glu295Gln
ENST00000458276.6:c.1006G>C	ENSP00000390849.2:p.Glu336Gln
ENST00000458276.7:c.819G>C	ENSP00000390849.3:p.Lys273Asn
ENST00000463153.1:n.236G>C
ENST00000463153.2:c.233G>C
ENST00000642351.1:c.883G>C	ENSP00000494478.1:p.Glu295Gln
ENST00000643140.1:c.*368G>C	ENSP00000495588.1:n.*368G>C
ENST00000643477.1:c.*467G>C	ENSP00000496220.1:n.*467G>C
ENST00000643500.1:c.*207G>C	ENSP00000494735.1:n.*207G>C
ENST00000643520.1:n.1172G>C
ENST00000646378.1:c.*1056G>C	ENSP00000495826.1:n.*1056G>C
ENST00000646799.1:c.*293G>C	ENSP00000494829.1:n.*293G>C
ENST00000649763.1:c.1006G>C	ENSP00000497701.1:p.Glu336Gln
XM_011533779.1:c.883G>C	XP_011532081.1:p.Glu295Gln
XM_011533780.1:c.819G>C	XP_011532082.1:p.Lys273Asn
XR_940447.1:n.951G>C