Canonical Allele Identifier: CA341276364
Gene: ABCA4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.93997929G>T , CM000663.2:g.93997929G>T GRCh38
NC_000001.10:g.94463485G>T , CM000663.1:g.94463485G>T GRCh37
NC_000001.9:g.94236073G>T NCBI36
NG_009073.1:g.128221C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6661C>A MANE Select ENSP00000359245.3:p.Leu2221Ile
ENST00000370225.3:c.6661C>A ENSP00000359245.3:p.Leu2221Ile
ENST00000536513.5:c.3037C>A ENSP00000439707.2:p.Leu1013Ile
NM_000350.2:c.6661C>A NP_000341.2:p.Leu2221Ile
NM_000350.3:c.6661C>A MANE Select NP_000341.2:p.Leu2221Ile