Canonical Allele Identifier: CA341279283
Gene: ABCA4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.94528165C>G (hg19) chr1:g.94062609C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94062609C>G , CM000663.2:g.94062609C>G GRCh38
NC_000001.10:g.94528165C>G , CM000663.1:g.94528165C>G GRCh37
NC_000001.9:g.94300753C>G NCBI36
NG_009073.1:g.63541G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.1905G>C MANE Select ENSP00000359245.3:p.Gln635His
ENST00000649773.1:c.1905G>C ENSP00000496882.1:p.Gln635His
ENST00000370225.3:c.1905G>C ENSP00000359245.3:p.Gln635His
ENST00000536513.5:c.-65+565G>C ENSP00000439707.2:n.-65+565G>C
NM_000350.2:c.1905G>C NP_000341.2:p.Gln635His
NM_000350.3:c.1905G>C MANE Select NP_000341.2:p.Gln635His
Search 100 bp 5'
Search 100 bp 3'