Canonical Allele Identifier: CA341283035
Gene: ABCA4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.94486868G>A (hg19) chr1:g.94021312G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94021312G>A , CM000663.2:g.94021312G>A GRCh38
NC_000001.10:g.94486868G>A , CM000663.1:g.94486868G>A GRCh37
NC_000001.9:g.94259456G>A NCBI36
NG_009073.1:g.104838C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4946C>T MANE Select ENSP00000359245.3:p.Pro1649Leu
ENST00000370225.3:c.4946C>T ENSP00000359245.3:p.Pro1649Leu
ENST00000460514.1:n.440C>T
ENST00000470771.1:n.56C>T
ENST00000536513.5:c.1322C>T ENSP00000439707.2:p.Pro441Leu
NM_000350.2:c.4946C>T NP_000341.2:p.Pro1649Leu
NM_000350.3:c.4946C>T MANE Select NP_000341.2:p.Pro1649Leu
Search 100 bp 5'
Search 100 bp 3'