Canonical Allele Identifier: CA1181447854
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs1557809767

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94111644G>C , CM000663.2:g.94111644G>C GRCh38
NC_000001.10:g.94577200G>C , CM000663.1:g.94577200G>C GRCh37
NC_000001.9:g.94349788G>C NCBI36
NG_009073.1:g.14506C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.161-65C>G MANE Select ENSP00000359245.3:n.161-65C>G
ENST00000649773.1:c.161-65C>G ENSP00000496882.1:n.161-65C>G
ENST00000370225.3:c.161-65C>G ENSP00000359245.3:n.161-65C>G
NM_000350.2:c.161-65C>G NP_000341.2:n.161-65C>G
NM_000350.3:c.161-65C>G MANE Select NP_000341.2:n.161-65C>G