Canonical Allele Identifier: CA959956

Gene: ABCD3

Linked Data

• dbSNP Id: rs753091516
• ExAC: 1:94884000 C / T
• gnomAD v2: 1-94884000-C-T
• gnomAD v3: 1-94418444-C-T
• gnomAD v4: 1-94418444-C-T
• MyVariant Identifiers: chr1:g.94884000C>T (hg19) ; chr1:g.94418444C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94418444C>T , CM000663.2:g.94418444C>T	GRCh38
NC_000001.10:g.94884000C>T , CM000663.1:g.94884000C>T	GRCh37
NC_000001.9:g.94656588C>T	NCBI36
NG_008865.1:g.5068C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370214.9:c.-35C>T MANE Select	ENSP00000359233.4:n.-35C>T
NM_001122674.1:c.-35C>T	NP_001116146.1:n.-35C>T
NM_002858.3:c.-35C>T	NP_002849.1:n.-35C>T
XM_006710802.2:c.-35C>T	XP_006710865.2:n.-35C>T
NM_002858.4:c.-35C>T MANE Select	NP_002849.1:n.-35C>T
NM_001122674.2:c.-35C>T	NP_001116146.1:n.-35C>T