Canonical Allele Identifier: CA341276730
Gene: ABCA4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.93998097A>G , CM000663.2:g.93998097A>G GRCh38
NC_000001.10:g.94463653A>G , CM000663.1:g.94463653A>G GRCh37
NC_000001.9:g.94236241A>G NCBI36
NG_009073.1:g.128053T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6493T>C MANE Select ENSP00000359245.3:p.Tyr2165His
ENST00000370225.3:c.6493T>C ENSP00000359245.3:p.Tyr2165His
ENST00000536513.5:c.2869T>C ENSP00000439707.2:p.Tyr957His
NM_000350.2:c.6493T>C NP_000341.2:p.Tyr2165His
NM_000350.3:c.6493T>C MANE Select NP_000341.2:p.Tyr2165His