Canonical Allele Identifier: CA341276317
Gene: ABCA4 HGNC NCBI

Linked Data

gnomAD v4: 1-93997908-T-C
MyVariant Identifiers: chr1:g.94463464T>C (hg19) chr1:g.93997908T>C (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6682A>G MANE Select ENSP00000359245.3:p.Ser2228Gly
ENST00000370225.3:c.6682A>G ENSP00000359245.3:p.Ser2228Gly
ENST00000536513.5:c.3058A>G ENSP00000439707.2:p.Ser1020Gly
NM_000350.2:c.6682A>G NP_000341.2:p.Ser2228Gly
NM_000350.3:c.6682A>G MANE Select NP_000341.2:p.Ser2228Gly
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