Canonical Allele Identifier: CA1181395398
Gene: ABCA4 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.93998115G= , CM000663.2:g.93998115G= GRCh38
NC_000001.10:g.94463671G= , CM000663.1:g.94463671G= GRCh37
NC_000001.9:g.94236259G= NCBI36
NG_009073.1:g.128035C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6480-5C= MANE Select ENSP00000359245.3:n.6480-5C=
ENST00000370225.3:c.6480-5C= ENSP00000359245.3:n.6480-5C=
ENST00000536513.5:c.2856-5C= ENSP00000439707.2:n.2856-5C=
NM_000350.2:c.6480-5C= NP_000341.2:n.6480-5C=
NM_000350.3:c.6480-5C= MANE Select NP_000341.2:n.6480-5C=
Search 100 bp 5'
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