Canonical Allele Identifier: CA341284771
Gene: ABCA4 HGNC NCBI

Linked Data

gnomAD v4: 1-94029450-G-A
MyVariant Identifiers: chr1:g.94495006G>A (hg19) chr1:g.94029450G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94029450G>A , CM000663.2:g.94029450G>A GRCh38
NC_000001.10:g.94495006G>A , CM000663.1:g.94495006G>A GRCh37
NC_000001.9:g.94267594G>A NCBI36
NG_009073.1:g.96700C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.4534C>T MANE Select ENSP00000359245.3:p.Pro1512Ser
ENST00000370225.3:c.4534C>T ENSP00000359245.3:p.Pro1512Ser
ENST00000536513.5:c.910C>T ENSP00000439707.2:p.Pro304Ser
NM_000350.2:c.4534C>T NP_000341.2:p.Pro1512Ser
NM_000350.3:c.4534C>T MANE Select NP_000341.2:p.Pro1512Ser
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Search 100 bp 3'