Canonical Allele Identifier: CA341285759
Gene: ABCA4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94030469C>A , CM000663.2:g.94030469C>A GRCh38
NC_000001.10:g.94496025C>A , CM000663.1:g.94496025C>A GRCh37
NC_000001.9:g.94268613C>A NCBI36
NG_009073.1:g.95681G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4311G>T MANE Select ENSP00000359245.3:p.Lys1437Asn
ENST00000370225.3:c.4311G>T ENSP00000359245.3:p.Lys1437Asn
ENST00000536513.5:c.687G>T ENSP00000439707.2:p.Lys229Asn
NM_000350.2:c.4311G>T NP_000341.2:p.Lys1437Asn
NM_000350.3:c.4311G>T MANE Select NP_000341.2:p.Lys1437Asn