Canonical Allele Identifier: CA959976

Gene: ABCD3

Linked Data

• ClinVar Variation Id: 1589644
• ClinVar RCV Id: RCV002119434
• dbSNP Id: rs371364095
• ExAC: 1:94884043 C / T
• gnomAD v2: 1-94884043-C-T
• gnomAD v3: 1-94418487-C-T
• gnomAD v4: 1-94418487-C-T
• MyVariant Identifiers: chr1:g.94884043C>T (hg19) ; chr1:g.94418487C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94418487C>T , CM000663.2:g.94418487C>T	GRCh38
NC_000001.10:g.94884043C>T , CM000663.1:g.94884043C>T	GRCh37
NC_000001.9:g.94656631C>T	NCBI36
NG_008865.1:g.5111C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370214.9:c.9C>T MANE Select	ENSP00000359233.4:p.Ala3=
ENST00000647998.2:c.9C>T	ENSP00000497921.2:p.Ala3=
ENST00000315713.5:c.9C>T	ENSP00000326880.5:p.Ala3=
ENST00000370214.8:c.9C>T	ENSP00000359233.4:p.Ala3=
NM_001122674.1:c.9C>T	NP_001116146.1:p.Ala3=
NM_002858.3:c.9C>T	NP_002849.1:p.Ala3=
XM_006710802.2:c.9C>T	XP_006710865.2:p.Ala3=
NM_002858.4:c.9C>T MANE Select	NP_002849.1:p.Ala3=
NM_001122674.2:c.9C>T	NP_001116146.1:p.Ala3=