Canonical Allele Identifier: CA400824529

Gene: ABCA5

Linked Data

• MyVariant Identifiers: chr17:g.67249962C>G (hg19) ; chr17:g.69253821C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.69253821C>G , CM000679.2:g.69253821C>G	GRCh38
NC_000017.10:g.67249962C>G , CM000679.1:g.67249962C>G	GRCh37
NC_000017.9:g.64761557C>G	NCBI36
NG_034199.1:g.78362G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392676.8:c.4293G>C MANE Select	ENSP00000376443.2:p.Lys1431Asn
ENST00000392676.7:c.4293G>C	ENSP00000376443.2:p.Lys1431Asn
ENST00000586811.1:c.1191G>C	ENSP00000465351.1:p.Lys397Asn
ENST00000586995.5:c.3355G>C	ENSP00000467251.1:n.3355G>C
ENST00000588877.5:c.4293G>C	ENSP00000467882.1:p.Lys1431Asn
ENST00000591234.5:c.2235G>C	ENSP00000465766.1:n.2235G>C
NM_018672.4:c.4293G>C	NP_061142.2:p.Lys1431Asn
NM_172232.3:c.4293G>C	NP_758424.1:p.Lys1431Asn
NM_172232.4:c.4293G>C MANE Select	NP_758424.1:p.Lys1431Asn
NM_018672.5:c.4293G>C	NP_061142.2:p.Lys1431Asn