Canonical Allele Identifier: CA956892
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs779979701
ExAC: 1:94466568 T / A
gnomAD v4: 1-94001012-T-A
MyVariant Identifiers: chr1:g.94466568T>A (hg19) chr1:g.94001012T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94001012T>A , CM000663.2:g.94001012T>A GRCh38
NC_000001.10:g.94466568T>A , CM000663.1:g.94466568T>A GRCh37
NC_000001.9:g.94239156T>A NCBI36
NG_009073.1:g.125138A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6376A>T MANE Select ENSP00000359245.3:p.Thr2126Ser
ENST00000370225.3:c.6376A>T ENSP00000359245.3:p.Thr2126Ser
ENST00000536513.5:c.2752A>T ENSP00000439707.2:p.Thr918Ser
NM_000350.2:c.6376A>T NP_000341.2:p.Thr2126Ser
NM_000350.3:c.6376A>T MANE Select NP_000341.2:p.Thr2126Ser
Search 100 bp 5'
Search 100 bp 3'