Canonical Allele Identifier: CA2639575551
Gene: ABCA5 HGNC NCBI

Linked Data

gnomAD v4: 17-69253958-A-T
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.69253958A>T , CM000679.2:g.69253958A>T GRCh38
NC_000017.10:g.67250099A>T , CM000679.1:g.67250099A>T GRCh37
NC_000017.9:g.64761694A>T NCBI36
NG_034199.1:g.78225T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000392676.8:c.4245-89T>A MANE Select ENSP00000376443.2:n.4245-89T>A
ENST00000392676.7:c.4245-89T>A ENSP00000376443.2:n.4245-89T>A
ENST00000586811.1:c.1143-89T>A ENSP00000465351.1:n.1143-89T>A
ENST00000586995.5:c.3307-89T>A ENSP00000467251.1:n.3307-89T>A
ENST00000588877.5:c.4245-89T>A ENSP00000467882.1:n.4245-89T>A
ENST00000591234.5:c.2187-89T>A ENSP00000465766.1:n.2187-89T>A
NM_018672.4:c.4245-89T>A NP_061142.2:n.4245-89T>A
NM_172232.3:c.4245-89T>A NP_758424.1:n.4245-89T>A
NM_172232.4:c.4245-89T>A MANE Select NP_758424.1:n.4245-89T>A
NM_018672.5:c.4245-89T>A NP_061142.2:n.4245-89T>A
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