Canonical Allele Identifier: CA645372399

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.[94001992C>G;94014622G>T] , CM000663.2:g.[94001992C>G;94014622G>T]	GRCh38
NC_000001.10:g.[94467548C>G;94480178G>T] , CM000663.1:g.[94467548C>G;94480178G>T]	GRCh37
NC_000001.9:g.[94240136C>G;94252766G>T]	NCBI36
NG_009073.1:g.[111528C>A;124158G>C]

Transcript Alleles

HGVS	Amino-acid Change
NM_000350.3:c.[5381C>A;6148G>C] MANE Select	NP_000341.2:p.[Ala1794Asp;Val2050Leu]
ENST00000370225.4:c.[5381C>A;6148G>C] MANE Select	ENSP00000359245.3:p.[Ala1794Asp;Val2050Leu]
NM_000350.2:c.[5381C>A;6148G>C]	NP_000341.2:p.[Ala1794Asp;Val2050Leu]
ENST00000370225.3:c.[5381C>A;6148G>C]	ENSP00000359245.3:p.[Ala1794Asp;Val2050Leu]
ENST00000536513.5:c.[1757C>A;2524G>C]	ENSP00000439707.2:p.[Ala586Asp;Val842Leu]