Canonical Allele Identifier: CA960055

Gene: ABCD3

Linked Data

• ClinVar Variation Id: 258821
• ClinVar RCV Id: RCV000242700 ; RCV000676007 ; RCV001548921
• dbSNP Id: rs16946
• ExAC: 1:94930345 G / A
• gnomAD v2: 1-94930345-G-A
• gnomAD v3: 1-94464789-G-A
• gnomAD v4: 1-94464789-G-A
• MyVariant Identifiers: chr1:g.94930345G>A (hg19) ; chr1:g.94464789G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94464789G>A , CM000663.2:g.94464789G>A	GRCh38
NC_000001.10:g.94930345G>A , CM000663.1:g.94930345G>A	GRCh37
NC_000001.9:g.94702933G>A	NCBI36
NG_008865.1:g.51413G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370214.9:c.162G>A MANE Select	ENSP00000359233.4:p.Lys54=
ENST00000647998.2:c.162G>A	ENSP00000497921.2:p.Lys54=
ENST00000315713.5:c.162G>A	ENSP00000326880.5:p.Lys54=
ENST00000370214.8:c.162G>A	ENSP00000359233.4:p.Lys54=
ENST00000468860.1:n.239G>A
NM_001122674.1:c.162G>A	NP_001116146.1:p.Lys54=
NM_002858.3:c.162G>A	NP_002849.1:p.Lys54=
XM_005271089.2:c.69G>A	XP_005271146.1:p.Lys23=
XM_006710802.2:c.234G>A	XP_006710865.2:p.Lys78=
NM_002858.4:c.162G>A MANE Select	NP_002849.1:p.Lys54=
NM_001122674.2:c.162G>A	NP_001116146.1:p.Lys54=