Canonical Allele Identifier: CA418836367

Gene: ABCD3

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94467936T>C , CM000663.2:g.94467936T>C	GRCh38
NC_000001.10:g.94933492T>C , CM000663.1:g.94933492T>C	GRCh37
NC_000001.9:g.94706080T>C	NCBI36
NG_008865.1:g.54560T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_002858.4:c.264T>C MANE Select	NP_002849.1:p.Leu88=
ENST00000370214.9:c.264T>C MANE Select	ENSP00000359233.4:p.Leu88=
NM_001122674.1:c.264T>C	NP_001116146.1:p.Leu88=
NM_001122674.2:c.264T>C	NP_001116146.1:p.Leu88=
NM_002858.3:c.264T>C	NP_002849.1:p.Leu88=
ENST00000315713.5:c.264T>C	ENSP00000326880.5:p.Leu88=
ENST00000370214.8:c.264T>C	ENSP00000359233.4:p.Leu88=
ENST00000468860.1:n.341T>C
ENST00000647998.2:c.264T>C	ENSP00000497921.2:p.Leu88=
XM_005271089.2:c.171T>C	XP_005271146.1:p.Leu57=
XM_006710802.2:c.336T>C	XP_006710865.2:p.Leu112=