Canonical Allele Identifier: CA341294756

Gene: ABCD3

Linked Data

• dbSNP Id: rs1337897756
• gnomAD v2: 1-94884035-A-G
• gnomAD v4: 1-94418479-A-G
• MyVariant Identifiers: chr1:g.94884035A>G (hg19) ; chr1:g.94418479A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94418479A>G , CM000663.2:g.94418479A>G	GRCh38
NC_000001.10:g.94884035A>G , CM000663.1:g.94884035A>G	GRCh37
NC_000001.9:g.94656623A>G	NCBI36
NG_008865.1:g.5103A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370214.9:c.1A>G MANE Select	ENSP00000359233.4:p.Met1Val
ENST00000647998.2:c.1A>G	ENSP00000497921.2:p.Met1Val
ENST00000315713.5:c.1A>G	ENSP00000326880.5:p.Met1Val
ENST00000370214.8:c.1A>G	ENSP00000359233.4:p.Met1Val
NM_001122674.1:c.1A>G	NP_001116146.1:p.Met1Val
NM_002858.3:c.1A>G	NP_002849.1:p.Met1Val
XM_006710802.2:c.1A>G	XP_006710865.2:p.Met1Val
NM_002858.4:c.1A>G MANE Select	NP_002849.1:p.Met1Val
NM_001122674.2:c.1A>G	NP_001116146.1:p.Met1Val