Canonical Allele Identifier: CA341277453

Gene: ABCA4

Linked Data

• MyVariant Identifiers: chr1:g.94466571G>C (hg19) ; chr1:g.94001015G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94001015G>C , CM000663.2:g.94001015G>C	GRCh38
NC_000001.10:g.94466571G>C , CM000663.1:g.94466571G>C	GRCh37
NC_000001.9:g.94239159G>C	NCBI36
NG_009073.1:g.125135C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.6373C>G MANE Select	ENSP00000359245.3:p.Leu2125Val
ENST00000370225.3:c.6373C>G	ENSP00000359245.3:p.Leu2125Val
ENST00000536513.5:c.2749C>G	ENSP00000439707.2:p.Leu917Val
NM_000350.2:c.6373C>G	NP_000341.2:p.Leu2125Val
NM_000350.3:c.6373C>G MANE Select	NP_000341.2:p.Leu2125Val