Canonical Allele Identifier: CA341276349
Gene: ABCA4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.93997922A>T , CM000663.2:g.93997922A>T GRCh38
NC_000001.10:g.94463478A>T , CM000663.1:g.94463478A>T GRCh37
NC_000001.9:g.94236066A>T NCBI36
NG_009073.1:g.128228T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6668T>A MANE Select ENSP00000359245.3:p.Leu2223His
ENST00000370225.3:c.6668T>A ENSP00000359245.3:p.Leu2223His
ENST00000536513.5:c.3044T>A ENSP00000439707.2:p.Leu1015His
NM_000350.2:c.6668T>A NP_000341.2:p.Leu2223His
NM_000350.3:c.6668T>A MANE Select NP_000341.2:p.Leu2223His