Canonical Allele Identifier: CA406301479
Gene: APOE HGNC NCBI

Linked Data

gnomAD v4: 19-44905916-G-C
MyVariant Identifiers: chr19:g.45409173G>C (hg19) chr19:g.44905916G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.44905916G>C , CM000681.2:g.44905916G>C GRCh38
NC_000019.9:g.45409173G>C , CM000681.1:g.45409173G>C GRCh37
NC_000019.8:g.50101013G>C NCBI36
NG_007084.2:g.5135G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000252486.9:c.-24+75G>C MANE Select ENSP00000252486.3:n.-24+75G>C
ENST00000252486.8:c.-24+75G>C ENSP00000252486.3:n.-24+75G>C
ENST00000434152.5:c.48G>C ENSP00000413653.2:p.Trp16Cys
ENST00000446996.5:c.-39+75G>C ENSP00000413135.1:n.-39+75G>C
ENST00000485628.2:n.46+75G>C
NM_000041.3:c.-24+75G>C NP_000032.1:n.-24+75G>C
NM_001302688.1:c.48G>C NP_001289617.1:p.Trp16Cys
NM_001302691.1:c.-39+75G>C NP_001289620.1:n.-39+75G>C
NM_000041.4:c.-24+75G>C MANE Select NP_000032.1:n.-24+75G>C
NM_001302688.2:c.48G>C NP_001289617.1:p.Trp16Cys
NM_001302691.2:c.-39+75G>C NP_001289620.1:n.-39+75G>C
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