Canonical Allele Identifier: CA628648539

Gene: ABHD3

Linked Data

• dbSNP Id: rs1179912012
• gnomAD v2: 18-19261551-A-G
• gnomAD v3: 18-21681590-A-G
• gnomAD v4: 18-21681590-A-G
• MyVariant Identifiers: chr18:g.19261551A>G (hg19) ; chr18:g.21681590A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.21681590A>G , CM000680.2:g.21681590A>G	GRCh38
NC_000018.9:g.19261551A>G , CM000680.1:g.19261551A>G	GRCh37
NC_000018.8:g.17515549A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000289119.7:c.555+2330T>C MANE Select	ENSP00000289119.2:n.555+2330T>C
ENST00000289119.6:c.555+2330T>C	ENSP00000289119.2:n.555+2330T>C
ENST00000577891.1:c.*74+2330T>C	ENSP00000463365.1:n.*74+2330T>C
ENST00000578270.5:c.-471+2330T>C	ENSP00000462578.1:n.-471+2330T>C
ENST00000579875.5:n.485-17360T>C
ENST00000580981.5:c.509+20726T>C	ENSP00000462935.1:n.509+20726T>C
NM_001308256.1:c.509+20726T>C	NP_001295185.1:n.509+20726T>C
NM_138340.4:c.555+2330T>C	NP_612213.2:n.555+2330T>C
XM_011525847.1:c.555+2330T>C	XP_011524149.1:n.555+2330T>C
XR_243847.1:n.695+2330T>C
XR_935209.1:n.650-17360T>C
XR_935210.1:n.650-17360T>C
XM_011525847.3:c.555+2330T>C	XP_011524149.1:n.555+2330T>C
XM_017025572.1:c.-470-17360T>C	XP_016881061.1:n.-470-17360T>C
XM_017025573.1:c.-471+583T>C	XP_016881062.1:n.-471+583T>C
XM_017025574.1:c.-471+171T>C	XP_016881063.1:n.-471+171T>C
XM_024451094.1:c.-471+2330T>C	XP_024306862.1:n.-471+2330T>C
XR_001753151.2:n.683+2330T>C
XR_002958165.1:n.683+2330T>C
XR_935209.3:n.638-17360T>C
XR_935210.3:n.638-17360T>C
NM_138340.5:c.555+2330T>C MANE Select	NP_612213.2:n.555+2330T>C
NM_001308256.2:c.509+20726T>C	NP_001295185.1:n.509+20726T>C