Canonical Allele Identifier: CA2646651785
Gene: ABCA4 HGNC NCBI

Linked Data

gnomAD v4: 1-94062828-C-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94062828C>A , CM000663.2:g.94062828C>A GRCh38
NC_000001.10:g.94528384C>A , CM000663.1:g.94528384C>A GRCh37
NC_000001.9:g.94300972C>A NCBI36
NG_009073.1:g.63322G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.1761-75G>T MANE Select ENSP00000359245.3:n.1761-75G>T
ENST00000649773.1:c.1761-75G>T ENSP00000496882.1:n.1761-75G>T
ENST00000370225.3:c.1761-75G>T ENSP00000359245.3:n.1761-75G>T
ENST00000536513.5:c.-65+346G>T ENSP00000439707.2:n.-65+346G>T
NM_000350.2:c.1761-75G>T NP_000341.2:n.1761-75G>T
NM_000350.3:c.1761-75G>T MANE Select NP_000341.2:n.1761-75G>T
Search 100 bp 5'
Search 100 bp 3'