Canonical Allele Identifier: CA2639575596

Gene: ABCA5

Linked Data

• gnomAD v4: 17-69254005-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.69254005G>A , CM000679.2:g.69254005G>A	GRCh38
NC_000017.10:g.67250146G>A , CM000679.1:g.67250146G>A	GRCh37
NC_000017.9:g.64761741G>A	NCBI36
NG_034199.1:g.78178C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392676.8:c.4245-136C>T MANE Select	ENSP00000376443.2:n.4245-136C>T
ENST00000392676.7:c.4245-136C>T	ENSP00000376443.2:n.4245-136C>T
ENST00000586811.1:c.1143-136C>T	ENSP00000465351.1:n.1143-136C>T
ENST00000586995.5:c.3307-136C>T	ENSP00000467251.1:n.3307-136C>T
ENST00000588877.5:c.4245-136C>T	ENSP00000467882.1:n.4245-136C>T
ENST00000591234.5:c.2187-136C>T	ENSP00000465766.1:n.2187-136C>T
NM_018672.4:c.4245-136C>T	NP_061142.2:n.4245-136C>T
NM_172232.3:c.4245-136C>T	NP_758424.1:n.4245-136C>T
NM_172232.4:c.4245-136C>T MANE Select	NP_758424.1:n.4245-136C>T
NM_018672.5:c.4245-136C>T	NP_061142.2:n.4245-136C>T