Canonical Allele Identifier: CA959961

Gene: ABCD3

Linked Data

• dbSNP Id: rs372971488
• ExAC: 1:94884006 C / G
• gnomAD v2: 1-94884006-C-G
• gnomAD v3: 1-94418450-C-G
• gnomAD v4: 1-94418450-C-G
• MyVariant Identifiers: chr1:g.94884006C>G (hg19) ; chr1:g.94884006_94884007delinsGT (hg19) ; chr1:g.94418450C>G (hg38) ; chr1:g.94418450_94418451delinsGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94418450C>G , CM000663.2:g.94418450C>G	GRCh38
NC_000001.10:g.94884006C>G , CM000663.1:g.94884006C>G	GRCh37
NC_000001.9:g.94656594C>G	NCBI36
NG_008865.1:g.5074C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370214.9:c.-29C>G MANE Select	ENSP00000359233.4:n.-29C>G
NM_001122674.1:c.-29C>G	NP_001116146.1:n.-29C>G
NM_002858.3:c.-29C>G	NP_002849.1:n.-29C>G
XM_006710802.2:c.-29C>G	XP_006710865.2:n.-29C>G
NM_002858.4:c.-29C>G MANE Select	NP_002849.1:n.-29C>G
NM_001122674.2:c.-29C>G	NP_001116146.1:n.-29C>G