Canonical Allele Identifier: CA2696610829
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs2101051325
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94043325G>A , CM000663.2:g.94043325G>A GRCh38
NC_000001.10:g.94508881G>A , CM000663.1:g.94508881G>A GRCh37
NC_000001.9:g.94281469G>A NCBI36
NG_009073.1:g.82825C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.3190+11C>T MANE Select ENSP00000359245.3:n.3190+11C>T
ENST00000370225.3:c.3190+11C>T ENSP00000359245.3:n.3190+11C>T
ENST00000536513.5:c.-64-3236C>T ENSP00000439707.2:n.-64-3236C>T
NM_000350.2:c.3190+11C>T NP_000341.2:n.3190+11C>T
NM_000350.3:c.3190+11C>T MANE Select NP_000341.2:n.3190+11C>T
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