Canonical Allele Identifier: CA341276316
Gene: ABCA4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.94463464T>A (hg19) chr1:g.93997908T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.93997908T>A , CM000663.2:g.93997908T>A GRCh38
NC_000001.10:g.94463464T>A , CM000663.1:g.94463464T>A GRCh37
NC_000001.9:g.94236052T>A NCBI36
NG_009073.1:g.128242A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6682A>T MANE Select ENSP00000359245.3:p.Ser2228Cys
ENST00000370225.3:c.6682A>T ENSP00000359245.3:p.Ser2228Cys
ENST00000536513.5:c.3058A>T ENSP00000439707.2:p.Ser1020Cys
NM_000350.2:c.6682A>T NP_000341.2:p.Ser2228Cys
NM_000350.3:c.6682A>T MANE Select NP_000341.2:p.Ser2228Cys
Search 100 bp 5'
Search 100 bp 3'