Canonical Allele Identifier: CA341276322
Gene: ABCA4 HGNC NCBI

Linked Data

gnomAD v4: 1-93997910-T-C
MyVariant Identifiers: chr1:g.94463466T>C (hg19) chr1:g.93997910T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.93997910T>C , CM000663.2:g.93997910T>C GRCh38
NC_000001.10:g.94463466T>C , CM000663.1:g.94463466T>C GRCh37
NC_000001.9:g.94236054T>C NCBI36
NG_009073.1:g.128240A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6680A>G MANE Select ENSP00000359245.3:p.Asp2227Gly
ENST00000370225.3:c.6680A>G ENSP00000359245.3:p.Asp2227Gly
ENST00000536513.5:c.3056A>G ENSP00000439707.2:p.Asp1019Gly
NM_000350.2:c.6680A>G NP_000341.2:p.Asp2227Gly
NM_000350.3:c.6680A>G MANE Select NP_000341.2:p.Asp2227Gly
Search 100 bp 5'
Search 100 bp 3'