Canonical Allele Identifier: CA400824434

Gene: ABCA5

Linked Data

• MyVariant Identifiers: chr17:g.67249943T>G (hg19) ; chr17:g.69253802T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.69253802T>G , CM000679.2:g.69253802T>G	GRCh38
NC_000017.10:g.67249943T>G , CM000679.1:g.67249943T>G	GRCh37
NC_000017.9:g.64761538T>G	NCBI36
NG_034199.1:g.78381A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392676.8:c.4312A>C MANE Select	ENSP00000376443.2:p.Lys1438Gln
ENST00000392676.7:c.4312A>C	ENSP00000376443.2:p.Lys1438Gln
ENST00000586811.1:c.1210A>C	ENSP00000465351.1:p.Lys404Gln
ENST00000586995.5:c.3374A>C	ENSP00000467251.1:n.3374A>C
ENST00000588877.5:c.4312A>C	ENSP00000467882.1:p.Lys1438Gln
ENST00000591234.5:c.2254A>C	ENSP00000465766.1:n.2254A>C
NM_018672.4:c.4312A>C	NP_061142.2:p.Lys1438Gln
NM_172232.3:c.4312A>C	NP_758424.1:p.Lys1438Gln
NM_172232.4:c.4312A>C MANE Select	NP_758424.1:p.Lys1438Gln
NM_018672.5:c.4312A>C	NP_061142.2:p.Lys1438Gln