Canonical Allele Identifier: CA8736754

Gene: ABCA5

Linked Data

• dbSNP Id: rs534944925
• ExAC: 17:67249907 G / A
• gnomAD v2: 17-67249907-G-A
• gnomAD v3: 17-69253766-G-A
• gnomAD v4: 17-69253766-G-A
• MyVariant Identifiers: chr17:g.67249907G>A (hg19) ; chr17:g.69253766G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.69253766G>A , CM000679.2:g.69253766G>A	GRCh38
NC_000017.10:g.67249907G>A , CM000679.1:g.67249907G>A	GRCh37
NC_000017.9:g.64761502G>A	NCBI36
NG_034199.1:g.78417C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392676.8:c.4320+28C>T MANE Select	ENSP00000376443.2:n.4320+28C>T
ENST00000392676.7:c.4320+28C>T	ENSP00000376443.2:n.4320+28C>T
ENST00000586811.1:c.1218+28C>T	ENSP00000465351.1:n.1218+28C>T
ENST00000586995.5:c.3382+28C>T	ENSP00000467251.1:n.3382+28C>T
ENST00000588877.5:c.4320+28C>T	ENSP00000467882.1:n.4320+28C>T
ENST00000591234.5:c.2262+28C>T	ENSP00000465766.1:n.2262+28C>T
NM_018672.4:c.4320+28C>T	NP_061142.2:n.4320+28C>T
NM_172232.3:c.4320+28C>T	NP_758424.1:n.4320+28C>T
NM_172232.4:c.4320+28C>T MANE Select	NP_758424.1:n.4320+28C>T
NM_018672.5:c.4320+28C>T	NP_061142.2:n.4320+28C>T