Canonical Allele Identifier: CA341847824

Gene: PHGDH

Linked Data

• gnomAD v4: 1-119727085-C-A
• MyVariant Identifiers: chr1:g.120269708C>A (hg19) ; chr1:g.119727085C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119727085C>A , CM000663.2:g.119727085C>A	GRCh38
NC_000001.10:g.120269708C>A , CM000663.1:g.120269708C>A	GRCh37
NC_000001.9:g.120071231C>A	NCBI36
NG_009188.1:g.20290C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000369409.9:c.493C>A	ENSP00000358417.5:p.Gln165Lys
ENST00000462324.2:n.576C>A
ENST00000641023.2:c.493C>A MANE Select	ENSP00000493175.1:p.Gln165Lys
ENST00000641074.1:c.493C>A	ENSP00000493446.1:p.Gln165Lys
ENST00000641115.1:c.493C>A	ENSP00000493264.1:p.Gln165Lys
ENST00000641213.1:c.*146C>A	ENSP00000493079.1:n.*146C>A
ENST00000641247.1:c.*212C>A	ENSP00000492955.1:n.*212C>A
ENST00000641272.1:c.427C>A	ENSP00000493432.1:p.Gln143Lys
ENST00000641314.1:n.478C>A
ENST00000641371.1:c.407C>A	ENSP00000493305.1:p.Ala136Glu
ENST00000641375.1:c.*329C>A	ENSP00000493089.1:n.*329C>A
ENST00000641455.1:n.38C>A
ENST00000641491.1:c.*146C>A	ENSP00000493187.1:n.*146C>A
ENST00000641570.1:c.*212C>A	ENSP00000493213.1:n.*212C>A
ENST00000641573.1:n.581C>A
ENST00000641587.1:c.*204C>A	ENSP00000493453.1:n.*204C>A
ENST00000641597.1:c.493C>A	ENSP00000493382.1:p.Gln165Lys
ENST00000641756.1:c.*237C>A	ENSP00000493147.1:n.*237C>A
ENST00000641811.1:c.249C>A
ENST00000641847.1:n.352C>A
ENST00000641891.1:c.*319C>A	ENSP00000493288.1:n.*319C>A
ENST00000641927.1:n.433C>A
ENST00000641947.1:c.493C>A	ENSP00000492994.1:p.Gln165Lys
ENST00000642021.1:n.615C>A
ENST00000369407.3:c.391C>A	ENSP00000358415.3:p.Gln131Lys
ENST00000369409.8:c.493C>A	ENSP00000358417.4:p.Gln165Lys
ENST00000462324.1:n.761C>A
ENST00000493622.5:n.682C>A
NM_006623.3:c.493C>A	NP_006614.2:p.Gln165Lys
XM_011541226.1:c.715C>A	XP_011539528.1:p.Gln239Lys
XM_011541227.1:c.637C>A	XP_011539529.1:p.Gln213Lys
XM_011541228.1:c.604C>A	XP_011539530.1:p.Gln202Lys
XM_011541229.1:c.430C>A	XP_011539531.1:p.Gln144Lys
XM_011541230.1:c.208C>A	XP_011539532.1:p.Gln70Lys
XM_011541231.1:c.199C>A	XP_011539533.1:p.Gln67Lys
XM_011541226.2:c.715C>A	XP_011539528.1:p.Gln239Lys
XM_011541227.2:c.637C>A	XP_011539529.1:p.Gln213Lys
XM_011541228.2:c.604C>A	XP_011539530.1:p.Gln202Lys
XM_011541231.2:c.199C>A	XP_011539533.1:p.Gln67Lys
XM_024446338.1:c.604C>A	XP_024302106.1:p.Gln202Lys
NM_006623.4:c.493C>A MANE Select	NP_006614.2:p.Gln165Lys