Canonical Allele Identifier: CA524392930

Gene: ABCD3

Linked Data

• dbSNP Id: rs984641615
• gnomAD v2: 1-94883983-C-A
• gnomAD v3: 1-94418427-C-A
• gnomAD v4: 1-94418427-C-A
• MyVariant Identifiers: chr1:g.94883983C>A (hg19) ; chr1:g.94418427C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94418427C>A , CM000663.2:g.94418427C>A	GRCh38
NC_000001.10:g.94883983C>A , CM000663.1:g.94883983C>A	GRCh37
NC_000001.9:g.94656571C>A	NCBI36
NG_008865.1:g.5051C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370214.9:c.-52C>A MANE Select	ENSP00000359233.4:n.-52C>A
NM_001122674.1:c.-52C>A	NP_001116146.1:n.-52C>A
NM_002858.3:c.-52C>A	NP_002849.1:n.-52C>A
XM_006710802.2:c.-52C>A	XP_006710865.2:n.-52C>A
NM_002858.4:c.-52C>A MANE Select	NP_002849.1:n.-52C>A
NM_001122674.2:c.-52C>A	NP_001116146.1:n.-52C>A