Canonical Allele Identifier: CA341285847
Gene: ABCA4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94030495C>A , CM000663.2:g.94030495C>A GRCh38
NC_000001.10:g.94496051C>A , CM000663.1:g.94496051C>A GRCh37
NC_000001.9:g.94268639C>A NCBI36
NG_009073.1:g.95655G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4285G>T MANE Select ENSP00000359245.3:p.Val1429Leu
ENST00000370225.3:c.4285G>T ENSP00000359245.3:p.Val1429Leu
ENST00000536513.5:c.661G>T ENSP00000439707.2:p.Val221Leu
NM_000350.2:c.4285G>T NP_000341.2:p.Val1429Leu
NM_000350.3:c.4285G>T MANE Select NP_000341.2:p.Val1429Leu