Canonical Allele Identifier: CA2272580298
Gene: ABCA5 HGNC NCBI

Linked Data

dbSNP Id: rs2075046534
gnomAD v4: 17-69253961-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.69253961A>G , CM000679.2:g.69253961A>G GRCh38
NC_000017.10:g.67250102A>G , CM000679.1:g.67250102A>G GRCh37
NC_000017.9:g.64761697A>G NCBI36
NG_034199.1:g.78222T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000392676.8:c.4245-92T>C MANE Select ENSP00000376443.2:n.4245-92T>C
ENST00000392676.7:c.4245-92T>C ENSP00000376443.2:n.4245-92T>C
ENST00000586811.1:c.1143-92T>C ENSP00000465351.1:n.1143-92T>C
ENST00000586995.5:c.3307-92T>C ENSP00000467251.1:n.3307-92T>C
ENST00000588877.5:c.4245-92T>C ENSP00000467882.1:n.4245-92T>C
ENST00000591234.5:c.2187-92T>C ENSP00000465766.1:n.2187-92T>C
NM_018672.4:c.4245-92T>C NP_061142.2:n.4245-92T>C
NM_172232.3:c.4245-92T>C NP_758424.1:n.4245-92T>C
NM_172232.4:c.4245-92T>C MANE Select NP_758424.1:n.4245-92T>C
NM_018672.5:c.4245-92T>C NP_061142.2:n.4245-92T>C
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