Canonical Allele Identifier: CA10602444
Community Standard Title: NM_000350.3(ABCA4):c.1918C>G (p.Pro640Ala)
Gene: ABCA4 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94062596G>C , CM000663.2:g.94062596G>C GRCh38
NC_000001.10:g.94528152G>C , CM000663.1:g.94528152G>C GRCh37
NC_000001.9:g.94300740G>C NCBI36
NG_009073.1:g.63554C>G

Transcript Alleles

HGVS Amino-acid Change
NM_000350.3:c.1918C>G MANE Select NP_000341.2:p.Pro640Ala
ENST00000370225.4:c.1918C>G MANE Select ENSP00000359245.3:p.Pro640Ala
NM_000350.2:c.1918C>G NP_000341.2:p.Pro640Ala
ENST00000370225.3:c.1918C>G ENSP00000359245.3:p.Pro640Ala
ENST00000536513.5:c.-65+578C>G ENSP00000439707.2:n.-65+578C>G
ENST00000649773.1:c.1918C>G ENSP00000496882.1:p.Pro640Ala
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