Canonical Allele Identifier: CA341284778
Gene: ABCA4 HGNC NCBI

Linked Data

gnomAD v4: 1-94029455-G-T
MyVariant Identifiers: chr1:g.94495011G>T (hg19) chr1:g.94029455G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94029455G>T , CM000663.2:g.94029455G>T GRCh38
NC_000001.10:g.94495011G>T , CM000663.1:g.94495011G>T GRCh37
NC_000001.9:g.94267599G>T NCBI36
NG_009073.1:g.96695C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4529C>A MANE Select ENSP00000359245.3:p.Pro1510Gln
ENST00000370225.3:c.4529C>A ENSP00000359245.3:p.Pro1510Gln
ENST00000536513.5:c.905C>A ENSP00000439707.2:p.Pro302Gln
NM_000350.2:c.4529C>A NP_000341.2:p.Pro1510Gln
NM_000350.3:c.4529C>A MANE Select NP_000341.2:p.Pro1510Gln
Search 100 bp 5'
Search 100 bp 3'