Canonical Allele Identifier: CA1181411459
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs1659710994
gnomAD v4: 1-94015587-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94015587G>A , CM000663.2:g.94015587G>A GRCh38
NC_000001.10:g.94481143G>A , CM000663.1:g.94481143G>A GRCh37
NC_000001.9:g.94253731G>A NCBI36
NG_009073.1:g.110563C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.5312+152C>T MANE Select ENSP00000359245.3:n.5312+152C>T
ENST00000370225.3:c.5312+152C>T ENSP00000359245.3:n.5312+152C>T
ENST00000536513.5:c.1688+152C>T ENSP00000439707.2:n.1688+152C>T
NM_000350.2:c.5312+152C>T NP_000341.2:n.5312+152C>T
NM_000350.3:c.5312+152C>T MANE Select NP_000341.2:n.5312+152C>T
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