Canonical Allele Identifier: CA1181420954
Gene: ABCA4 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94043577T= , CM000663.2:g.94043577T= GRCh38
NC_000001.10:g.94509133T= , CM000663.1:g.94509133T= GRCh37
NC_000001.9:g.94281721T= NCBI36
NG_009073.1:g.82573A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.3051-102A= MANE Select ENSP00000359245.3:n.3051-102A=
ENST00000370225.3:c.3051-102A= ENSP00000359245.3:n.3051-102A=
ENST00000536513.5:c.-64-3488A= ENSP00000439707.2:n.-64-3488A=
NM_000350.2:c.3051-102A= NP_000341.2:n.3051-102A=
NM_000350.3:c.3051-102A= MANE Select NP_000341.2:n.3051-102A=
Search 100 bp 5'
Search 100 bp 3'