Canonical Allele Identifier: CA74393478

Gene: ABHD5

Linked Data

• dbSNP Id: rs1008706767
• gnomAD v2: 3-43762351-C-T
• gnomAD v3: 3-43720859-C-T
• gnomAD v4: 3-43720859-C-T
• MyVariant Identifiers: chr3:g.43762351C>T (hg19) ; chr3:g.43720859C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43720859C>T , CM000665.2:g.43720859C>T	GRCh38
NC_000003.11:g.43762351C>T , CM000665.1:g.43762351C>T	GRCh37
NC_000003.10:g.43737355C>T	NCBI36
NG_007090.3:g.34977C>T
NG_007090.5:g.34990C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000454293.2:c.*29+2298C>T	ENSP00000412014.2:n.*29+2298C>T
ENST00000463153.2:c.306+2298C>T
ENST00000644371.2:c.*2327C>T MANE Select	ENSP00000495778.1:n.*2327C>T
ENST00000649763.1:c.*29+2298C>T	ENSP00000497701.1:n.*29+2298C>T
ENST00000463153.1:n.309+2298C>T
NM_016006.4:c.*2327C>T	NP_057090.2:n.*2327C>T
XM_011533779.1:c.*2327C>T	XP_011532081.1:n.*2327C>T
XM_011533780.1:c.*2353C>T	XP_011532082.1:n.*2353C>T
XR_940447.1:n.3322C>T
NM_001355186.1:c.*29+2298C>T	NP_001342115.1:n.*29+2298C>T
NM_001365649.1:c.*2327C>T	NP_001352578.1:n.*2327C>T
NM_001365650.1:c.*2353C>T	NP_001352579.1:n.*2353C>T
NM_016006.5:c.*2327C>T	NP_057090.2:n.*2327C>T
NR_158560.1:n.3388C>T
NM_001355186.2:c.*29+2298C>T	NP_001342115.1:n.*29+2298C>T
NM_016006.6:c.*2327C>T MANE Select	NP_057090.2:n.*2327C>T