Canonical Allele Identifier: CA214438

Gene: PHC1

Linked Data

• ClinVar Variation Id: 65406
• ClinVar RCV Id: RCV000055626 ; RCV000162141
• dbSNP Id: rs587777036
• MyVariant Identifiers: chr12:g.9092014C>T (hg19) ; chr12:g.8939418C>T (hg38)
• PubMed: PMID:23418308 ; PMID:25558065

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.8939418C>T , CM000674.2:g.8939418C>T	GRCh38
NC_000012.11:g.9092014C>T , CM000674.1:g.9092014C>T	GRCh37
NC_000012.10:g.8983281C>T	NCBI36
NG_042273.1:g.29699C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000544916.6:c.2974C>T MANE Select	ENSP00000437659.1:p.Leu992Phe
ENST00000433083.6:c.2839C>T	ENSP00000399194.2:p.Leu947Phe
ENST00000540574.5:c.*1824C>T	ENSP00000444308.1:n.*1824C>T
ENST00000542346.1:c.284-453C>T	ENSP00000446388.1:n.284-453C>T
ENST00000543824.5:c.2974C>T	ENSP00000440674.1:p.Leu992Phe
ENST00000544916.5:c.2974C>T	ENSP00000437659.1:p.Leu992Phe
NM_004426.2:c.2974C>T	NP_004417.2:p.Leu992Phe
XM_005253334.1:c.2950C>T	XP_005253391.1:p.Leu984Phe
XM_011520598.1:c.3025C>T	XP_011518900.1:p.Leu1009Phe
XM_011520599.1:c.3001C>T	XP_011518901.1:p.Leu1001Phe
XM_011520600.1:c.2875C>T	XP_011518902.1:p.Leu959Phe
XM_011520601.1:c.2869C>T	XP_011518903.1:p.Leu957Phe
XM_011520602.1:c.2818C>T	XP_011518904.1:p.Leu940Phe
XM_011520603.1:c.3025C>T	XP_011518905.1:p.Leu1009Phe
XM_005253334.3:c.2950C>T	XP_005253391.1:p.Leu984Phe
XM_011520599.2:c.3001C>T	XP_011518901.1:p.Leu1001Phe
XM_011520600.2:c.2875C>T	XP_011518902.1:p.Leu959Phe
XM_011520603.2:c.3025C>T	XP_011518905.1:p.Leu1009Phe
XM_017018955.2:c.3025C>T	XP_016874444.1:p.Leu1009Phe
XM_017018956.1:c.2851C>T	XP_016874445.1:p.Leu951Phe
XM_017018957.1:c.2824C>T	XP_016874446.1:p.Leu942Phe
XM_017018958.1:c.2800C>T	XP_016874447.1:p.Leu934Phe
NM_004426.3:c.2974C>T MANE Select	NP_004417.2:p.Leu992Phe