Canonical Allele Identifier: CA959980

Gene: ABCD3

Linked Data

• dbSNP Id: rs756063558
• ExAC: 1:94884094 C / T
• gnomAD v2: 1-94884094-C-T
• gnomAD v4: 1-94418538-C-T
• MyVariant Identifiers: chr1:g.94884094C>T (hg19) ; chr1:g.94418538C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94418538C>T , CM000663.2:g.94418538C>T	GRCh38
NC_000001.10:g.94884094C>T , CM000663.1:g.94884094C>T	GRCh37
NC_000001.9:g.94656682C>T	NCBI36
NG_008865.1:g.5162C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000370214.9:c.60C>T MANE Select	ENSP00000359233.4:p.Phe20=
ENST00000647998.2:c.60C>T	ENSP00000497921.2:p.Phe20=
ENST00000315713.5:c.60C>T	ENSP00000326880.5:p.Phe20=
ENST00000370214.8:c.60C>T	ENSP00000359233.4:p.Phe20=
NM_001122674.1:c.60C>T	NP_001116146.1:p.Phe20=
NM_002858.3:c.60C>T	NP_002849.1:p.Phe20=
XM_006710802.2:c.60C>T	XP_006710865.2:p.Phe20=
NM_002858.4:c.60C>T MANE Select	NP_002849.1:p.Phe20=
NM_001122674.2:c.60C>T	NP_001116146.1:p.Phe20=