Canonical Allele Identifier: CA341277468
Gene: ABCA4 HGNC NCBI

Linked Data

gnomAD v4: 1-94001024-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94001024C>A , CM000663.2:g.94001024C>A GRCh38
NC_000001.10:g.94466580C>A , CM000663.1:g.94466580C>A GRCh37
NC_000001.9:g.94239168C>A NCBI36
NG_009073.1:g.125126G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6364G>T MANE Select ENSP00000359245.3:p.Ala2122Ser
ENST00000370225.3:c.6364G>T ENSP00000359245.3:p.Ala2122Ser
ENST00000536513.5:c.2740G>T ENSP00000439707.2:p.Ala914Ser
NM_000350.2:c.6364G>T NP_000341.2:p.Ala2122Ser
NM_000350.3:c.6364G>T MANE Select NP_000341.2:p.Ala2122Ser