Canonical Allele Identifier: CA341276279
Gene: ABCA4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.93997890A>G , CM000663.2:g.93997890A>G GRCh38
NC_000001.10:g.94463446A>G , CM000663.1:g.94463446A>G GRCh37
NC_000001.9:g.94236034A>G NCBI36
NG_009073.1:g.128260T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6700T>C MANE Select ENSP00000359245.3:p.Tyr2234His
ENST00000370225.3:c.6700T>C ENSP00000359245.3:p.Tyr2234His
ENST00000536513.5:c.3076T>C ENSP00000439707.2:p.Tyr1026His
NM_000350.2:c.6700T>C NP_000341.2:p.Tyr2234His
NM_000350.3:c.6700T>C MANE Select NP_000341.2:p.Tyr2234His