Canonical Allele Identifier: CA26875799

Gene: ABCD3

Linked Data

• dbSNP Id: rs1033550580
• gnomAD v2: 1-94883989-C-T
• gnomAD v3: 1-94418433-C-T
• gnomAD v4: 1-94418433-C-T
• MyVariant Identifiers: chr1:g.94883989C>T (hg19) ; chr1:g.94418433C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94418433C>T , CM000663.2:g.94418433C>T	GRCh38
NC_000001.10:g.94883989C>T , CM000663.1:g.94883989C>T	GRCh37
NC_000001.9:g.94656577C>T	NCBI36
NG_008865.1:g.5057C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370214.9:c.-46C>T MANE Select	ENSP00000359233.4:n.-46C>T
NM_001122674.1:c.-46C>T	NP_001116146.1:n.-46C>T
NM_002858.3:c.-46C>T	NP_002849.1:n.-46C>T
XM_006710802.2:c.-46C>T	XP_006710865.2:n.-46C>T
NM_002858.4:c.-46C>T MANE Select	NP_002849.1:n.-46C>T
NM_001122674.2:c.-46C>T	NP_001116146.1:n.-46C>T