Canonical Allele Identifier: CA26875953

Gene: ABCD3

Linked Data

• dbSNP Id: rs942454190
• gnomAD v4: 1-94418531-C-T
• MyVariant Identifiers: chr1:g.94884087C>T (hg19) ; chr1:g.94418531C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94418531C>T , CM000663.2:g.94418531C>T	GRCh38
NC_000001.10:g.94884087C>T , CM000663.1:g.94884087C>T	GRCh37
NC_000001.9:g.94656675C>T	NCBI36
NG_008865.1:g.5155C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370214.9:c.53C>T MANE Select	ENSP00000359233.4:p.Ala18Val
ENST00000647998.2:c.53C>T	ENSP00000497921.2:p.Ala18Val
ENST00000315713.5:c.53C>T	ENSP00000326880.5:p.Ala18Val
ENST00000370214.8:c.53C>T	ENSP00000359233.4:p.Ala18Val
NM_001122674.1:c.53C>T	NP_001116146.1:p.Ala18Val
NM_002858.3:c.53C>T	NP_002849.1:p.Ala18Val
XM_006710802.2:c.53C>T	XP_006710865.2:p.Ala18Val
NM_002858.4:c.53C>T MANE Select	NP_002849.1:p.Ala18Val
NM_001122674.2:c.53C>T	NP_001116146.1:p.Ala18Val