Canonical Allele Identifier: CA224420
Gene: APOH HGNC NCBI

Linked Data

ClinVar Variation Id: 96713
ClinVar RCV Id: RCV000082872
dbSNP Id: rs398124629
gnomAD v4: 17-66228149-T-C
COSMIC: COSM5893900
MyVariant Identifiers: chr17:g.64224267T>C (hg19) chr17:g.66228149T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.66228149T>C , CM000679.2:g.66228149T>C GRCh38
NC_000017.10:g.64224267T>C , CM000679.1:g.64224267T>C GRCh37
NC_000017.9:g.61654729T>C NCBI36
NG_012045.1:g.6290A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000205948.11:c.112A>G MANE Select ENSP00000205948.6:p.Lys38Glu
ENST00000205948.10:c.112A>G ENSP00000205948.6:p.Lys38Glu
ENST00000577982.1:c.112A>G ENSP00000464301.1:p.Lys38Glu
ENST00000581797.5:c.-69A>G ENSP00000463553.1:n.-69A>G
NM_000042.2:c.112A>G NP_000033.2:p.Lys38Glu
NM_000042.3:c.112A>G MANE Select NP_000033.2:p.Lys38Glu
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