Canonical Allele Identifier: CA341283553
Gene: ABCA4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94021641T>A , CM000663.2:g.94021641T>A GRCh38
NC_000001.10:g.94487197T>A , CM000663.1:g.94487197T>A GRCh37
NC_000001.9:g.94259785T>A NCBI36
NG_009073.1:g.104509A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4847A>T MANE Select ENSP00000359245.3:p.Lys1616Met
ENST00000370225.3:c.4847A>T ENSP00000359245.3:p.Lys1616Met
ENST00000460514.1:n.341A>T
ENST00000536513.5:c.1223A>T ENSP00000439707.2:p.Lys408Met
NM_000350.2:c.4847A>T NP_000341.2:p.Lys1616Met
NM_000350.3:c.4847A>T MANE Select NP_000341.2:p.Lys1616Met