Canonical Allele Identifier: CA1181407981
Gene: ABCA4 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94021034A= , CM000663.2:g.94021034A= GRCh38
NC_000001.10:g.94486590A= , CM000663.1:g.94486590A= GRCh37
NC_000001.9:g.94259178A= NCBI36
NG_009073.1:g.105116T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.5018+206T= MANE Select ENSP00000359245.3:n.5018+206T=
ENST00000370225.3:c.5018+206T= ENSP00000359245.3:n.5018+206T=
ENST00000460514.1:n.512+206T=
ENST00000470771.1:n.128+206T=
ENST00000536513.5:c.1394+206T= ENSP00000439707.2:n.1394+206T=
NM_000350.2:c.5018+206T= NP_000341.2:n.5018+206T=
NM_000350.3:c.5018+206T= MANE Select NP_000341.2:n.5018+206T=
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