Canonical Allele Identifier: CA1181447844
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs1662607490

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94111608G>T , CM000663.2:g.94111608G>T GRCh38
NC_000001.10:g.94577164G>T , CM000663.1:g.94577164G>T GRCh37
NC_000001.9:g.94349752G>T NCBI36
NG_009073.1:g.14542C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.161-29C>A MANE Select ENSP00000359245.3:n.161-29C>A
ENST00000649773.1:c.161-29C>A ENSP00000496882.1:n.161-29C>A
ENST00000370225.3:c.161-29C>A ENSP00000359245.3:n.161-29C>A
NM_000350.2:c.161-29C>A NP_000341.2:n.161-29C>A
NM_000350.3:c.161-29C>A MANE Select NP_000341.2:n.161-29C>A