Canonical Allele Identifier: CA341285622

Gene: ABCA4

Linked Data

• MyVariant Identifiers: chr1:g.94577124T>A (hg19) ; chr1:g.94111568T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94111568T>A , CM000663.2:g.94111568T>A	GRCh38
NC_000001.10:g.94577124T>A , CM000663.1:g.94577124T>A	GRCh37
NC_000001.9:g.94349712T>A	NCBI36
NG_009073.1:g.14582A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.172A>T MANE Select	ENSP00000359245.3:p.Asn58Tyr
ENST00000649773.1:c.172A>T	ENSP00000496882.1:p.Asn58Tyr
ENST00000370225.3:c.172A>T	ENSP00000359245.3:p.Asn58Tyr
NM_000350.2:c.172A>T	NP_000341.2:p.Asn58Tyr
NM_000350.3:c.172A>T MANE Select	NP_000341.2:p.Asn58Tyr