Canonical Allele Identifier: CA418826409
Gene: ABCA4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.94544905T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94079349T>A , CM000663.2:g.94079349T>A GRCh38
NC_000001.10:g.94544905T>A , CM000663.1:g.94544905T>A GRCh37
NC_000001.9:g.94317493T>A NCBI36
NG_009073.1:g.46801A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.1212A>T MANE Select ENSP00000359245.3:p.Ser404=
ENST00000649773.1:c.1212A>T ENSP00000496882.1:p.Ser404=
ENST00000370225.3:c.1212A>T ENSP00000359245.3:p.Ser404=
NM_000350.2:c.1212A>T NP_000341.2:p.Ser404=
NM_000350.3:c.1212A>T MANE Select NP_000341.2:p.Ser404=