Canonical Allele Identifier: CA1142393041
Gene: ABCA4 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94041315T= , CM000663.2:g.94041315T= GRCh38
NC_000001.10:g.94506871T= , CM000663.1:g.94506871T= GRCh37
NC_000001.9:g.94279459T= NCBI36
NG_009073.1:g.84835A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.3416A= MANE Select ENSP00000359245.3:p.Tyr1139=
ENST00000370225.3:c.3416A= ENSP00000359245.3:p.Tyr1139=
ENST00000536513.5:c.-64-1226A= ENSP00000439707.2:n.-64-1226A=
NM_000350.2:c.3416A= NP_000341.2:p.Tyr1139=
NM_000350.3:c.3416A= MANE Select NP_000341.2:p.Tyr1139=
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