Canonical Allele Identifier: CA341279503
Gene: ABCA4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.94528229A>C (hg19) chr1:g.94062673A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94062673A>C , CM000663.2:g.94062673A>C GRCh38
NC_000001.10:g.94528229A>C , CM000663.1:g.94528229A>C GRCh37
NC_000001.9:g.94300817A>C NCBI36
NG_009073.1:g.63477T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.1841T>G MANE Select ENSP00000359245.3:p.Met614Arg
ENST00000649773.1:c.1841T>G ENSP00000496882.1:p.Met614Arg
ENST00000370225.3:c.1841T>G ENSP00000359245.3:p.Met614Arg
ENST00000536513.5:c.-65+501T>G ENSP00000439707.2:n.-65+501T>G
NM_000350.2:c.1841T>G NP_000341.2:p.Met614Arg
NM_000350.3:c.1841T>G MANE Select NP_000341.2:p.Met614Arg
Search 100 bp 5'
Search 100 bp 3'