Canonical Allele Identifier: CA1181411446
Gene: ABCA4 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94015581T= , CM000663.2:g.94015581T= GRCh38
NC_000001.10:g.94481137T= , CM000663.1:g.94481137T= GRCh37
NC_000001.9:g.94253725T= NCBI36
NG_009073.1:g.110569A=

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.5312+158A= MANE Select ENSP00000359245.3:n.5312+158A=
ENST00000370225.3:c.5312+158A= ENSP00000359245.3:n.5312+158A=
ENST00000536513.5:c.1688+158A= ENSP00000439707.2:n.1688+158A=
NM_000350.2:c.5312+158A= NP_000341.2:n.5312+158A=
NM_000350.3:c.5312+158A= MANE Select NP_000341.2:n.5312+158A=
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