Canonical Allele Identifier: CA352347721

Gene: ABHD5

Linked Data

• dbSNP Id: rs2084786100
• MyVariant Identifiers: chr3:g.43759298T>G (hg19) ; chr3:g.43717806T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43717806T>G , CM000665.2:g.43717806T>G	GRCh38
NC_000003.11:g.43759298T>G , CM000665.1:g.43759298T>G	GRCh37
NC_000003.10:g.43734302T>G	NCBI36
NG_007090.3:g.31924T>G
NG_007090.5:g.31937T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000413300.2:c.308T>G
ENST00000454293.2:c.786T>G	ENSP00000412014.2:p.Asn262Lys
ENST00000458276.7:c.774-637T>G	ENSP00000390849.3:n.774-637T>G
ENST00000463153.2:c.136T>G
ENST00000642351.1:c.786T>G	ENSP00000494478.1:p.Asn262Lys
ENST00000643140.1:c.*271T>G	ENSP00000495588.1:n.*271T>G
ENST00000643477.1:c.*370T>G	ENSP00000496220.1:n.*370T>G
ENST00000643500.1:c.*110T>G	ENSP00000494735.1:n.*110T>G
ENST00000643520.1:n.1075T>G
ENST00000644371.2:c.909T>G MANE Select	ENSP00000495778.1:p.Asn303Lys
ENST00000646378.1:c.*959T>G	ENSP00000495826.1:n.*959T>G
ENST00000646799.1:c.*248-637T>G	ENSP00000494829.1:n.*248-637T>G
ENST00000649763.1:c.909T>G	ENSP00000497701.1:p.Asn303Lys
ENST00000413300.1:c.310T>G	ENSP00000392159.1:p.Phe104Val
ENST00000458276.6:c.909T>G	ENSP00000390849.2:p.Asn303Lys
ENST00000463153.1:n.139T>G
NM_016006.4:c.909T>G	NP_057090.2:p.Asn303Lys
XM_011533779.1:c.786T>G	XP_011532081.1:p.Asn262Lys
XM_011533780.1:c.774-637T>G	XP_011532082.1:n.774-637T>G
XR_940447.1:n.854T>G
NM_001355186.1:c.909T>G	NP_001342115.1:p.Asn303Lys
NM_001365649.1:c.786T>G	NP_001352578.1:p.Asn262Lys
NM_001365650.1:c.774-637T>G	NP_001352579.1:n.774-637T>G
NM_016006.5:c.909T>G	NP_057090.2:p.Asn303Lys
NR_158560.1:n.920T>G
NM_001355186.2:c.909T>G	NP_001342115.1:p.Asn303Lys
NM_016006.6:c.909T>G MANE Select	NP_057090.2:p.Asn303Lys