Canonical Allele Identifier: CA418808483
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs1659054900
gnomAD v4: 1-93997954-G-A
MyVariant Identifiers: chr1:g.94463510G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.93997954G>A , CM000663.2:g.93997954G>A GRCh38
NC_000001.10:g.94463510G>A , CM000663.1:g.94463510G>A GRCh37
NC_000001.9:g.94236098G>A NCBI36
NG_009073.1:g.128196C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6636C>T MANE Select ENSP00000359245.3:p.Ser2212=
ENST00000370225.3:c.6636C>T ENSP00000359245.3:p.Ser2212=
ENST00000536513.5:c.3012C>T ENSP00000439707.2:p.Ser1004=
NM_000350.2:c.6636C>T NP_000341.2:p.Ser2212=
NM_000350.3:c.6636C>T MANE Select NP_000341.2:p.Ser2212=
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