Canonical Allele Identifier: CA2639575507

Gene: ABCA5

Linked Data

• gnomAD v4: 17-69253930-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.69253930G>T , CM000679.2:g.69253930G>T	GRCh38
NC_000017.10:g.67250071G>T , CM000679.1:g.67250071G>T	GRCh37
NC_000017.9:g.64761666G>T	NCBI36
NG_034199.1:g.78253C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392676.8:c.4245-61C>A MANE Select	ENSP00000376443.2:n.4245-61C>A
ENST00000392676.7:c.4245-61C>A	ENSP00000376443.2:n.4245-61C>A
ENST00000586811.1:c.1143-61C>A	ENSP00000465351.1:n.1143-61C>A
ENST00000586995.5:c.3307-61C>A	ENSP00000467251.1:n.3307-61C>A
ENST00000588877.5:c.4245-61C>A	ENSP00000467882.1:n.4245-61C>A
ENST00000591234.5:c.2187-61C>A	ENSP00000465766.1:n.2187-61C>A
NM_018672.4:c.4245-61C>A	NP_061142.2:n.4245-61C>A
NM_172232.3:c.4245-61C>A	NP_758424.1:n.4245-61C>A
NM_172232.4:c.4245-61C>A MANE Select	NP_758424.1:n.4245-61C>A
NM_018672.5:c.4245-61C>A	NP_061142.2:n.4245-61C>A