Canonical Allele Identifier: CA8720505

Gene: APOH

Linked Data

• dbSNP Id: rs748283658
• ExAC: 17:64224215 T / C
• gnomAD v2: 17-64224215-T-C
• gnomAD v3: 17-66228097-T-C
• gnomAD v4: 17-66228097-T-C
• MyVariant Identifiers: chr17:g.64224215T>C (hg19) ; chr17:g.66228097T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.66228097T>C , CM000679.2:g.66228097T>C	GRCh38
NC_000017.10:g.64224215T>C , CM000679.1:g.64224215T>C	GRCh37
NC_000017.9:g.61654677T>C	NCBI36
NG_012045.1:g.6342A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000205948.11:c.164A>G MANE Select	ENSP00000205948.6:p.Tyr55Cys
ENST00000205948.10:c.164A>G	ENSP00000205948.6:p.Tyr55Cys
ENST00000577982.1:c.164A>G	ENSP00000464301.1:p.Tyr55Cys
ENST00000581797.5:c.-17A>G	ENSP00000463553.1:n.-17A>G
NM_000042.2:c.164A>G	NP_000033.2:p.Tyr55Cys
NM_000042.3:c.164A>G MANE Select	NP_000033.2:p.Tyr55Cys