Canonical Allele Identifier: CA1144193114
Gene: ABCA4 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.93997839C= , CM000663.2:g.93997839C= GRCh38
NC_000001.10:g.94463395C= , CM000663.1:g.94463395C= GRCh37
NC_000001.9:g.94235983C= NCBI36
NG_009073.1:g.128311G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6729+22G= MANE Select ENSP00000359245.3:n.6729+22G=
ENST00000370225.3:c.6729+22G= ENSP00000359245.3:n.6729+22G=
ENST00000536513.5:c.3105+22G= ENSP00000439707.2:n.3105+22G=
NM_000350.2:c.6729+22G= NP_000341.2:n.6729+22G=
NM_000350.3:c.6729+22G= MANE Select NP_000341.2:n.6729+22G=
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