Canonical Allele Identifier: CA1181415185
Gene: ABCA4 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94031104G= , CM000663.2:g.94031104G= GRCh38
NC_000001.10:g.94496660G= , CM000663.1:g.94496660G= GRCh37
NC_000001.9:g.94269248G= NCBI36
NG_009073.1:g.95046C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4145C= MANE Select ENSP00000359245.3:p.Thr1382=
ENST00000370225.3:c.4145C= ENSP00000359245.3:p.Thr1382=
ENST00000536513.5:c.521C= ENSP00000439707.2:p.Thr174=
NM_000350.2:c.4145C= NP_000341.2:p.Thr1382=
NM_000350.3:c.4145C= MANE Select NP_000341.2:p.Thr1382=
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