Canonical Allele Identifier: CA341294973

Gene: ABCD3

Linked Data

• dbSNP Id: rs1308849332
• gnomAD v2: 1-94884089-G-T
• gnomAD v4: 1-94418533-G-T
• MyVariant Identifiers: chr1:g.94884089G>T (hg19) ; chr1:g.94418533G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94418533G>T , CM000663.2:g.94418533G>T	GRCh38
NC_000001.10:g.94884089G>T , CM000663.1:g.94884089G>T	GRCh37
NC_000001.9:g.94656677G>T	NCBI36
NG_008865.1:g.5157G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000370214.9:c.55G>T MANE Select	ENSP00000359233.4:p.Ala19Ser
ENST00000647998.2:c.55G>T	ENSP00000497921.2:p.Ala19Ser
ENST00000315713.5:c.55G>T	ENSP00000326880.5:p.Ala19Ser
ENST00000370214.8:c.55G>T	ENSP00000359233.4:p.Ala19Ser
NM_001122674.1:c.55G>T	NP_001116146.1:p.Ala19Ser
NM_002858.3:c.55G>T	NP_002849.1:p.Ala19Ser
XM_006710802.2:c.55G>T	XP_006710865.2:p.Ala19Ser
NM_002858.4:c.55G>T MANE Select	NP_002849.1:p.Ala19Ser
NM_001122674.2:c.55G>T	NP_001116146.1:p.Ala19Ser