Canonical Allele Identifier: CA341277429
Gene: ABCA4 HGNC NCBI

Linked Data

gnomAD v4: 1-94001003-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94001003T>C , CM000663.2:g.94001003T>C GRCh38
NC_000001.10:g.94466559T>C , CM000663.1:g.94466559T>C GRCh37
NC_000001.9:g.94239147T>C NCBI36
NG_009073.1:g.125147A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6385A>G MANE Select ENSP00000359245.3:p.Ser2129Gly
ENST00000370225.3:c.6385A>G ENSP00000359245.3:p.Ser2129Gly
ENST00000536513.5:c.2761A>G ENSP00000439707.2:p.Ser921Gly
NM_000350.2:c.6385A>G NP_000341.2:p.Ser2129Gly
NM_000350.3:c.6385A>G MANE Select NP_000341.2:p.Ser2129Gly