Canonical Allele Identifier: CA415116759
Gene: ABCD1 HGNC NCBI

Linked Data

gnomAD v4: X-153743243-G-T
MyVariant Identifiers: chrX:g.153008697G>T (hg19) chrX:g.153743243G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153743243G>T , CM000685.2:g.153743243G>T GRCh38
NC_000023.10:g.153008697G>T , CM000685.1:g.153008697G>T GRCh37
NC_000023.9:g.152661891G>T NCBI36
NG_009022.2:g.23376G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000218104.6:c.1888G>T MANE Select ENSP00000218104.3:p.Glu630Ter
ENST00000218104.5:c.1888G>T ENSP00000218104.3:p.Glu630Ter
NM_000033.3:c.1888G>T NP_000024.2:p.Glu630Ter
XR_938507.1:n.2360G>T
XR_938507.2:n.2360G>T
NM_000033.4:c.1888G>T MANE Select NP_000024.2:p.Glu630Ter
Search 100 bp 5'
Search 100 bp 3'