Canonical Allele Identifier: CA8720500

Gene: APOH

Linked Data

• dbSNP Id: rs757929741
• ExAC: 17:64224199 C / G
• gnomAD v2: 17-64224199-C-G
• gnomAD v3: 17-66228081-C-G
• gnomAD v4: 17-66228081-C-G
• MyVariant Identifiers: chr17:g.64224199C>G (hg19) ; chr17:g.66228081C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.66228081C>G , CM000679.2:g.66228081C>G	GRCh38
NC_000017.10:g.64224199C>G , CM000679.1:g.64224199C>G	GRCh37
NC_000017.9:g.61654661C>G	NCBI36
NG_012045.1:g.6358G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000205948.11:c.180G>C MANE Select	ENSP00000205948.6:p.Gly60=
ENST00000205948.10:c.180G>C	ENSP00000205948.6:p.Gly60=
ENST00000577982.1:c.180G>C	ENSP00000464301.1:p.Gly60=
ENST00000581797.5:c.-1G>C	ENSP00000463553.1:n.-1G>C
NM_000042.2:c.180G>C	NP_000033.2:p.Gly60=
NM_000042.3:c.180G>C MANE Select	NP_000033.2:p.Gly60=