Canonical Allele Identifier: CA400824375

Gene: ABCA5

Linked Data

• MyVariant Identifiers: chr17:g.67249935C>A (hg19) ; chr17:g.69253794C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.69253794C>A , CM000679.2:g.69253794C>A	GRCh38
NC_000017.10:g.67249935C>A , CM000679.1:g.67249935C>A	GRCh37
NC_000017.9:g.64761530C>A	NCBI36
NG_034199.1:g.78389G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392676.8:c.4320G>T MANE Select	ENSP00000376443.2:p.Lys1440Asn
ENST00000392676.7:c.4320G>T	ENSP00000376443.2:p.Lys1440Asn
ENST00000586811.1:c.1218G>T	ENSP00000465351.1:p.Lys406Asn
ENST00000586995.5:c.3382G>T	ENSP00000467251.1:n.3382G>T
ENST00000588877.5:c.4320G>T	ENSP00000467882.1:p.Lys1440Asn
ENST00000591234.5:c.2262G>T	ENSP00000465766.1:n.2262G>T
NM_018672.4:c.4320G>T	NP_061142.2:p.Lys1440Asn
NM_172232.3:c.4320G>T	NP_758424.1:p.Lys1440Asn
NM_172232.4:c.4320G>T MANE Select	NP_758424.1:p.Lys1440Asn
NM_018672.5:c.4320G>T	NP_061142.2:p.Lys1440Asn