Canonical Allele Identifier: CA296983202

Gene: ABHD3

Linked Data

• dbSNP Id: rs534476050
• gnomAD v3: 18-21681407-C-G
• gnomAD v4: 18-21681407-C-G
• MyVariant Identifiers: chr18:g.19261368C>G (hg19) ; chr18:g.21681407C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.21681407C>G , CM000680.2:g.21681407C>G	GRCh38
NC_000018.9:g.19261368C>G , CM000680.1:g.19261368C>G	GRCh37
NC_000018.8:g.17515366C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000289119.7:c.555+2513G>C MANE Select	ENSP00000289119.2:n.555+2513G>C
ENST00000289119.6:c.555+2513G>C	ENSP00000289119.2:n.555+2513G>C
ENST00000577891.1:c.*74+2513G>C	ENSP00000463365.1:n.*74+2513G>C
ENST00000578270.5:c.-471+2513G>C	ENSP00000462578.1:n.-471+2513G>C
ENST00000579875.5:n.485-17177G>C
ENST00000580981.5:c.509+20909G>C	ENSP00000462935.1:n.509+20909G>C
NM_001308256.1:c.509+20909G>C	NP_001295185.1:n.509+20909G>C
NM_138340.4:c.555+2513G>C	NP_612213.2:n.555+2513G>C
XM_011525847.1:c.555+2513G>C	XP_011524149.1:n.555+2513G>C
XR_243847.1:n.695+2513G>C
XR_935209.1:n.650-17177G>C
XR_935210.1:n.650-17177G>C
XM_011525847.3:c.555+2513G>C	XP_011524149.1:n.555+2513G>C
XM_017025572.1:c.-470-17177G>C	XP_016881061.1:n.-470-17177G>C
XM_017025573.1:c.-471+766G>C	XP_016881062.1:n.-471+766G>C
XM_017025574.1:c.-471+354G>C	XP_016881063.1:n.-471+354G>C
XM_024451094.1:c.-471+2513G>C	XP_024306862.1:n.-471+2513G>C
XR_001753151.2:n.683+2513G>C
XR_002958165.1:n.683+2513G>C
XR_935209.3:n.638-17177G>C
XR_935210.3:n.638-17177G>C
NM_138340.5:c.555+2513G>C MANE Select	NP_612213.2:n.555+2513G>C
NM_001308256.2:c.509+20909G>C	NP_001295185.1:n.509+20909G>C