Canonical Allele Identifier: CA394047329

Gene: PIGQ

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.574349C>A , CM000678.2:g.574349C>A	GRCh38
NC_000016.9:g.624349C>A , CM000678.1:g.624349C>A	GRCh37
NC_000016.8:g.564350C>A	NCBI36
NG_034206.1:g.9382C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004204.5:c.275C>A MANE Select	NP_004195.2:p.Pro92His
ENST00000321878.10:c.275C>A MANE Select	ENSP00000326674.6:p.Pro92His
NM_004204.3:c.275C>A	NP_004195.2:p.Pro92His
NM_148920.2:c.275C>A	NP_683721.1:p.Pro92His
NM_148920.3:c.275C>A	NP_683721.1:p.Pro92His
NM_148920.4:c.275C>A	NP_683721.1:p.Pro92His
ENST00000026218.9:c.275C>A	ENSP00000026218.5:p.Pro92His
ENST00000293874.2:c.275C>A	ENSP00000293874.2:p.Pro92His
ENST00000321878.9:c.275C>A	ENSP00000326674.5:p.Pro92His
ENST00000409527.6:c.275C>A	ENSP00000386760.2:p.Pro92His
ENST00000422307.6:c.275C>A	ENSP00000413753.2:p.Pro92His
ENST00000439574.1:c.275C>A	ENSP00000387820.1:p.Pro92His
ENST00000443147.5:c.317C>A	ENSP00000410434.1:p.Pro106His
ENST00000470411.2:c.275C>A	ENSP00000439650.1:p.Pro92His
ENST00000635909.1:c.18C>A
ENST00000636657.1:c.275C>A	ENSP00000490087.1:p.Pro92His