Canonical Allele Identifier: CA400824314

Gene: ABCA5

Linked Data

• dbSNP Id: rs754069144
• gnomAD v2: 17-67249799-C-A
• gnomAD v4: 17-69253658-C-A
• MyVariant Identifiers: chr17:g.67249799C>A (hg19) ; chr17:g.69253658C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.69253658C>A , CM000679.2:g.69253658C>A	GRCh38
NC_000017.10:g.67249799C>A , CM000679.1:g.67249799C>A	GRCh37
NC_000017.9:g.64761394C>A	NCBI36
NG_034199.1:g.78525G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392676.8:c.4330G>T MANE Select	ENSP00000376443.2:p.Ala1444Ser
ENST00000392676.7:c.4330G>T	ENSP00000376443.2:p.Ala1444Ser
ENST00000586811.1:c.1228G>T	ENSP00000465351.1:p.Ala410Ser
ENST00000586995.5:c.3392G>T	ENSP00000467251.1:n.3392G>T
ENST00000588877.5:c.4330G>T	ENSP00000467882.1:p.Ala1444Ser
ENST00000591234.5:c.2272G>T	ENSP00000465766.1:n.2272G>T
NM_018672.4:c.4330G>T	NP_061142.2:p.Ala1444Ser
NM_172232.3:c.4330G>T	NP_758424.1:p.Ala1444Ser
NM_172232.4:c.4330G>T MANE Select	NP_758424.1:p.Ala1444Ser
NM_018672.5:c.4330G>T	NP_061142.2:p.Ala1444Ser