Canonical Allele Identifier: CA6437139

Gene: PHC1

Linked Data

• ClinVar Variation Id: 436302
• ClinVar RCV Id: RCV000504070 ; RCV003392332 ; RCV003925486
• dbSNP Id: rs144307674
• ExAC: 12:9086931 G / A
• gnomAD v2: 12-9086931-G-A
• gnomAD v3: 12-8934335-G-A
• gnomAD v4: 12-8934335-G-A
• MyVariant Identifiers: chr12:g.9086931G>A (hg19) ; chr12:g.8934335G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.8934335G>A , CM000674.2:g.8934335G>A	GRCh38
NC_000012.11:g.9086931G>A , CM000674.1:g.9086931G>A	GRCh37
NC_000012.10:g.8978198G>A	NCBI36
NG_042273.1:g.24616G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000544916.6:c.2110G>A MANE Select	ENSP00000437659.1:p.Ala704Thr
ENST00000433083.6:c.1975G>A	ENSP00000399194.2:p.Ala659Thr
ENST00000535510.1:c.246G>A
ENST00000540574.5:c.*960G>A	ENSP00000444308.1:n.*960G>A
ENST00000540809.1:n.545G>A
ENST00000542346.1:c.283+3663G>A	ENSP00000446388.1:n.283+3663G>A
ENST00000543824.5:c.2110G>A	ENSP00000440674.1:p.Ala704Thr
ENST00000544916.5:c.2110G>A	ENSP00000437659.1:p.Ala704Thr
NM_004426.2:c.2110G>A	NP_004417.2:p.Ala704Thr
XM_005253334.1:c.2086G>A	XP_005253391.1:p.Ala696Thr
XM_011520598.1:c.2161G>A	XP_011518900.1:p.Ala721Thr
XM_011520599.1:c.2137G>A	XP_011518901.1:p.Ala713Thr
XM_011520600.1:c.2011G>A	XP_011518902.1:p.Ala671Thr
XM_011520601.1:c.2005G>A	XP_011518903.1:p.Ala669Thr
XM_011520602.1:c.1954G>A	XP_011518904.1:p.Ala652Thr
XM_011520603.1:c.2161G>A	XP_011518905.1:p.Ala721Thr
XM_005253334.3:c.2086G>A	XP_005253391.1:p.Ala696Thr
XM_011520599.2:c.2137G>A	XP_011518901.1:p.Ala713Thr
XM_011520600.2:c.2011G>A	XP_011518902.1:p.Ala671Thr
XM_011520603.2:c.2161G>A	XP_011518905.1:p.Ala721Thr
XM_017018955.2:c.2161G>A	XP_016874444.1:p.Ala721Thr
XM_017018956.1:c.1987G>A	XP_016874445.1:p.Ala663Thr
XM_017018957.1:c.1960G>A	XP_016874446.1:p.Ala654Thr
XM_017018958.1:c.1936G>A	XP_016874447.1:p.Ala646Thr
NM_004426.3:c.2110G>A MANE Select	NP_004417.2:p.Ala704Thr