Canonical Allele Identifier: CA341276746
Gene: ABCA4 HGNC NCBI

Linked Data

gnomAD v4: 1-93998105-C-G
MyVariant Identifiers: chr1:g.94463661C>G (hg19) chr1:g.93998105C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.93998105C>G , CM000663.2:g.93998105C>G GRCh38
NC_000001.10:g.94463661C>G , CM000663.1:g.94463661C>G GRCh37
NC_000001.9:g.94236249C>G NCBI36
NG_009073.1:g.128045G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6485G>C MANE Select ENSP00000359245.3:p.Gly2162Ala
ENST00000370225.3:c.6485G>C ENSP00000359245.3:p.Gly2162Ala
ENST00000536513.5:c.2861G>C ENSP00000439707.2:p.Gly954Ala
NM_000350.2:c.6485G>C NP_000341.2:p.Gly2162Ala
NM_000350.3:c.6485G>C MANE Select NP_000341.2:p.Gly2162Ala
Search 100 bp 5'
Search 100 bp 3'