Canonical Allele Identifier: CA418809347
Gene: ABCA4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.94463654G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.93998098G>C , CM000663.2:g.93998098G>C GRCh38
NC_000001.10:g.94463654G>C , CM000663.1:g.94463654G>C GRCh37
NC_000001.9:g.94236242G>C NCBI36
NG_009073.1:g.128052C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6492C>G MANE Select ENSP00000359245.3:p.Gly2164=
ENST00000370225.3:c.6492C>G ENSP00000359245.3:p.Gly2164=
ENST00000536513.5:c.2868C>G ENSP00000439707.2:p.Gly956=
NM_000350.2:c.6492C>G NP_000341.2:p.Gly2164=
NM_000350.3:c.6492C>G MANE Select NP_000341.2:p.Gly2164=