Canonical Allele Identifier: CA2574438842
Gene: ABCA4 HGNC NCBI

Linked Data

gnomAD v4: 1-94043572-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94043572G>T , CM000663.2:g.94043572G>T GRCh38
NC_000001.10:g.94509128G>T , CM000663.1:g.94509128G>T GRCh37
NC_000001.9:g.94281716G>T NCBI36
NG_009073.1:g.82578C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.3051-97C>A MANE Select ENSP00000359245.3:n.3051-97C>A
ENST00000370225.3:c.3051-97C>A ENSP00000359245.3:n.3051-97C>A
ENST00000536513.5:c.-64-3483C>A ENSP00000439707.2:n.-64-3483C>A
NM_000350.2:c.3051-97C>A NP_000341.2:n.3051-97C>A
NM_000350.3:c.3051-97C>A MANE Select NP_000341.2:n.3051-97C>A