Canonical Allele Identifier: CA1004588911
Gene: ABCD3 HGNC NCBI

Linked Data

dbSNP Id: rs1659107241
gnomAD v3: 1-94418430-C-T
gnomAD v4: 1-94418430-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94418430C>T , CM000663.2:g.94418430C>T GRCh38
NC_000001.10:g.94883986C>T , CM000663.1:g.94883986C>T GRCh37
NC_000001.9:g.94656574C>T NCBI36
NG_008865.1:g.5054C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370214.9:c.-49C>T MANE Select ENSP00000359233.4:n.-49C>T
NM_001122674.1:c.-49C>T NP_001116146.1:n.-49C>T
NM_002858.3:c.-49C>T NP_002849.1:n.-49C>T
XM_006710802.2:c.-49C>T XP_006710865.2:n.-49C>T
NM_002858.4:c.-49C>T MANE Select NP_002849.1:n.-49C>T
NM_001122674.2:c.-49C>T NP_001116146.1:n.-49C>T
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