Canonical Allele Identifier: CA8736771
Gene: ABCA5 HGNC NCBI

Linked Data

ClinVar Variation Id: 2594187
ClinVar RCV Id: RCV004340154
dbSNP Id: rs200810054
ExAC: 17:67249997 G / A
gnomAD v2: 17-67249997-G-A
gnomAD v3: 17-69253856-G-A
gnomAD v4: 17-69253856-G-A
MyVariant Identifiers: chr17:g.67249997G>A (hg19) chr17:g.69253856G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.69253856G>A , CM000679.2:g.69253856G>A GRCh38
NC_000017.10:g.67249997G>A , CM000679.1:g.67249997G>A GRCh37
NC_000017.9:g.64761592G>A NCBI36
NG_034199.1:g.78327C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000392676.8:c.4258C>T MANE Select ENSP00000376443.2:p.Leu1420Phe
ENST00000392676.7:c.4258C>T ENSP00000376443.2:p.Leu1420Phe
ENST00000586811.1:c.1156C>T ENSP00000465351.1:p.Leu386Phe
ENST00000586995.5:c.3320C>T ENSP00000467251.1:n.3320C>T
ENST00000588877.5:c.4258C>T ENSP00000467882.1:p.Leu1420Phe
ENST00000591234.5:c.2200C>T ENSP00000465766.1:n.2200C>T
NM_018672.4:c.4258C>T NP_061142.2:p.Leu1420Phe
NM_172232.3:c.4258C>T NP_758424.1:p.Leu1420Phe
NM_172232.4:c.4258C>T MANE Select NP_758424.1:p.Leu1420Phe
NM_018672.5:c.4258C>T NP_061142.2:p.Leu1420Phe
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