Canonical Allele Identifier: CA960057

Gene: ABCD3

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94464795A>C , CM000663.2:g.94464795A>C	GRCh38
NC_000001.10:g.94930351A>C , CM000663.1:g.94930351A>C	GRCh37
NC_000001.9:g.94702939A>C	NCBI36
NG_008865.1:g.51419A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_002858.4:c.168A>C MANE Select	NP_002849.1:p.Arg56=
ENST00000370214.9:c.168A>C MANE Select	ENSP00000359233.4:p.Arg56=
NM_001122674.1:c.168A>C	NP_001116146.1:p.Arg56=
NM_001122674.2:c.168A>C	NP_001116146.1:p.Arg56=
NM_002858.3:c.168A>C	NP_002849.1:p.Arg56=
ENST00000315713.5:c.168A>C	ENSP00000326880.5:p.Arg56=
ENST00000370214.8:c.168A>C	ENSP00000359233.4:p.Arg56=
ENST00000468860.1:n.245A>C
ENST00000647998.2:c.168A>C	ENSP00000497921.2:p.Arg56=
XM_005271089.2:c.75A>C	XP_005271146.1:p.Arg25=
XM_006710802.2:c.240A>C	XP_006710865.2:p.Arg80=