Canonical Allele Identifier: CA26875929

Gene: ABCD3

Linked Data

• dbSNP Id: rs944209498
• MyVariant Identifiers: chr1:g.94884036T>C (hg19) ; chr1:g.94418480T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94418480T>C , CM000663.2:g.94418480T>C	GRCh38
NC_000001.10:g.94884036T>C , CM000663.1:g.94884036T>C	GRCh37
NC_000001.9:g.94656624T>C	NCBI36
NG_008865.1:g.5104T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370214.9:c.2T>C MANE Select	ENSP00000359233.4:p.Met1Thr
ENST00000647998.2:c.2T>C	ENSP00000497921.2:p.Met1Thr
ENST00000315713.5:c.2T>C	ENSP00000326880.5:p.Met1Thr
ENST00000370214.8:c.2T>C	ENSP00000359233.4:p.Met1Thr
NM_001122674.1:c.2T>C	NP_001116146.1:p.Met1Thr
NM_002858.3:c.2T>C	NP_002849.1:p.Met1Thr
XM_006710802.2:c.2T>C	XP_006710865.2:p.Met1Thr
NM_002858.4:c.2T>C MANE Select	NP_002849.1:p.Met1Thr
NM_001122674.2:c.2T>C	NP_001116146.1:p.Met1Thr