Canonical Allele Identifier: CA8907503

Gene: ABHD3

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.21651652A>G , CM000680.2:g.21651652A>G	GRCh38
NC_000018.9:g.19231613A>G , CM000680.1:g.19231613A>G	GRCh37
NC_000018.8:g.17485611A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_138340.5:c.1169T>C MANE Select	NP_612213.2:p.Met390Thr
ENST00000289119.7:c.1169T>C MANE Select	ENSP00000289119.2:p.Met390Thr
NM_001308256.1:c.1010T>C	NP_001295185.1:p.Met337Thr
NM_001308256.2:c.1010T>C	NP_001295185.1:p.Met337Thr
NM_001308257.1:c.584T>C	NP_001295186.1:p.Met195Thr
NM_001308257.2:c.584T>C	NP_001295186.1:p.Met195Thr
NM_138340.4:c.1169T>C	NP_612213.2:p.Met390Thr
ENST00000289119.6:c.1169T>C	ENSP00000289119.2:p.Met390Thr
ENST00000578270.5:c.584T>C	ENSP00000462578.1:p.Met195Thr
ENST00000580981.5:c.1010T>C	ENSP00000462935.1:p.Met337Thr
XM_017025572.1:c.584T>C	XP_016881061.1:p.Met195Thr
XM_017025573.1:c.584T>C	XP_016881062.1:p.Met195Thr
XM_017025574.1:c.584T>C	XP_016881063.1:p.Met195Thr
XM_024451094.1:c.584T>C	XP_024306862.1:p.Met195Thr
XR_002958165.1:n.1737T>C
XR_243847.1:n.1749T>C
XR_935209.1:n.1263T>C
XR_935209.3:n.1251T>C