Canonical Allele Identifier: CA341279468
Gene: ABCA4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94062665G>T , CM000663.2:g.94062665G>T GRCh38
NC_000001.10:g.94528221G>T , CM000663.1:g.94528221G>T GRCh37
NC_000001.9:g.94300809G>T NCBI36
NG_009073.1:g.63485C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.1849C>A MANE Select ENSP00000359245.3:p.Gln617Lys
ENST00000649773.1:c.1849C>A ENSP00000496882.1:p.Gln617Lys
ENST00000370225.3:c.1849C>A ENSP00000359245.3:p.Gln617Lys
ENST00000536513.5:c.-65+509C>A ENSP00000439707.2:n.-65+509C>A
NM_000350.2:c.1849C>A NP_000341.2:p.Gln617Lys
NM_000350.3:c.1849C>A MANE Select NP_000341.2:p.Gln617Lys