Canonical Allele Identifier: CA341276343
Gene: ABCA4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.93997919G>T , CM000663.2:g.93997919G>T GRCh38
NC_000001.10:g.94463475G>T , CM000663.1:g.94463475G>T GRCh37
NC_000001.9:g.94236063G>T NCBI36
NG_009073.1:g.128231C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6671C>A MANE Select ENSP00000359245.3:p.Ser2224Tyr
ENST00000370225.3:c.6671C>A ENSP00000359245.3:p.Ser2224Tyr
ENST00000536513.5:c.3047C>A ENSP00000439707.2:p.Ser1016Tyr
NM_000350.2:c.6671C>A NP_000341.2:p.Ser2224Tyr
NM_000350.3:c.6671C>A MANE Select NP_000341.2:p.Ser2224Tyr