Canonical Allele Identifier: CA341276751
Gene: ABCA4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.93998107A>T , CM000663.2:g.93998107A>T GRCh38
NC_000001.10:g.94463663A>T , CM000663.1:g.94463663A>T GRCh37
NC_000001.9:g.94236251A>T NCBI36
NG_009073.1:g.128043T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6483T>A MANE Select ENSP00000359245.3:p.Phe2161Leu
ENST00000370225.3:c.6483T>A ENSP00000359245.3:p.Phe2161Leu
ENST00000536513.5:c.2859T>A ENSP00000439707.2:p.Phe953Leu
NM_000350.2:c.6483T>A NP_000341.2:p.Phe2161Leu
NM_000350.3:c.6483T>A MANE Select NP_000341.2:p.Phe2161Leu