Canonical Allele Identifier: CA1181430105
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs912603640

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94067667A>T , CM000663.2:g.94067667A>T GRCh38
NC_000001.10:g.94533223A>T , CM000663.1:g.94533223A>T GRCh37
NC_000001.9:g.94305811A>T NCBI36
NG_009073.1:g.58483T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.1555-4350T>A MANE Select ENSP00000359245.3:n.1555-4350T>A
ENST00000649773.1:c.1555-4350T>A ENSP00000496882.1:n.1555-4350T>A
ENST00000370225.3:c.1555-4350T>A ENSP00000359245.3:n.1555-4350T>A
NM_000350.2:c.1555-4350T>A NP_000341.2:n.1555-4350T>A
NM_000350.3:c.1555-4350T>A MANE Select NP_000341.2:n.1555-4350T>A