Canonical Allele Identifier: CA341275628
Gene: ABCA4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94047091A>T , CM000663.2:g.94047091A>T GRCh38
NC_000001.10:g.94512647A>T , CM000663.1:g.94512647A>T GRCh37
NC_000001.9:g.94285235A>T NCBI36
NG_009073.1:g.79059T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.2746T>A MANE Select ENSP00000359245.3:p.Ser916Thr
ENST00000649773.1:c.2524T>A ENSP00000496882.1:p.Ser842Thr
ENST00000370225.3:c.2746T>A ENSP00000359245.3:p.Ser916Thr
ENST00000536513.5:c.-64-7002T>A ENSP00000439707.2:n.-64-7002T>A
NM_000350.2:c.2746T>A NP_000341.2:p.Ser916Thr
NM_000350.3:c.2746T>A MANE Select NP_000341.2:p.Ser916Thr