Canonical Allele Identifier: CA341277601
Gene: ABCA4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94001087T>G , CM000663.2:g.94001087T>G GRCh38
NC_000001.10:g.94466643T>G , CM000663.1:g.94466643T>G GRCh37
NC_000001.9:g.94239231T>G NCBI36
NG_009073.1:g.125063A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6301A>C MANE Select ENSP00000359245.3:p.Met2101Leu
ENST00000370225.3:c.6301A>C ENSP00000359245.3:p.Met2101Leu
ENST00000536513.5:c.2677A>C ENSP00000439707.2:p.Met893Leu
NM_000350.2:c.6301A>C NP_000341.2:p.Met2101Leu
NM_000350.3:c.6301A>C MANE Select NP_000341.2:p.Met2101Leu