Canonical Allele Identifier: CA341847548

Gene: PHGDH

Linked Data

• MyVariant Identifiers: chr1:g.120269482C>A (hg19) ; chr1:g.119726859C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119726859C>A , CM000663.2:g.119726859C>A	GRCh38
NC_000001.10:g.120269482C>A , CM000663.1:g.120269482C>A	GRCh37
NC_000001.9:g.120071005C>A	NCBI36
NG_009188.1:g.20064C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.365C>A	ENSP00000358417.5:p.Pro122His
ENST00000462324.2:n.448C>A
ENST00000641023.2:c.365C>A MANE Select	ENSP00000493175.1:p.Pro122His
ENST00000641074.1:c.365C>A	ENSP00000493446.1:p.Pro122His
ENST00000641115.1:c.365C>A	ENSP00000493264.1:p.Pro122His
ENST00000641213.1:c.*18C>A	ENSP00000493079.1:n.*18C>A
ENST00000641247.1:c.*84C>A	ENSP00000492955.1:n.*84C>A
ENST00000641272.1:c.299C>A	ENSP00000493432.1:p.Pro100His
ENST00000641314.1:n.350C>A
ENST00000641371.1:c.279C>A	ENSP00000493305.1:p.Ser93=
ENST00000641375.1:c.*201C>A	ENSP00000493089.1:n.*201C>A
ENST00000641491.1:c.*18C>A	ENSP00000493187.1:n.*18C>A
ENST00000641513.1:c.*109C>A	ENSP00000493398.1:n.*109C>A
ENST00000641570.1:c.*84C>A	ENSP00000493213.1:n.*84C>A
ENST00000641573.1:n.453C>A
ENST00000641587.1:c.*76C>A	ENSP00000493453.1:n.*76C>A
ENST00000641597.1:c.365C>A	ENSP00000493382.1:p.Pro122His
ENST00000641711.1:n.589C>A
ENST00000641756.1:c.*109C>A	ENSP00000493147.1:n.*109C>A
ENST00000641811.1:c.121C>A
ENST00000641847.1:n.224C>A
ENST00000641891.1:c.*191C>A	ENSP00000493288.1:n.*191C>A
ENST00000641927.1:n.305C>A
ENST00000641947.1:c.365C>A	ENSP00000492994.1:p.Pro122His
ENST00000642021.1:n.487C>A
ENST00000642041.1:c.*404C>A	ENSP00000493415.1:n.*404C>A
ENST00000369407.3:c.263C>A	ENSP00000358415.3:p.Pro88His
ENST00000369409.8:c.365C>A	ENSP00000358417.4:p.Pro122His
ENST00000462324.1:n.633C>A
ENST00000493622.5:n.554C>A
NM_006623.3:c.365C>A	NP_006614.2:p.Pro122His
XM_011541226.1:c.587C>A	XP_011539528.1:p.Pro196His
XM_011541227.1:c.509C>A	XP_011539529.1:p.Pro170His
XM_011541228.1:c.476C>A	XP_011539530.1:p.Pro159His
XM_011541229.1:c.302C>A	XP_011539531.1:p.Pro101His
XM_011541230.1:c.80C>A	XP_011539532.1:p.Pro27His
XM_011541231.1:c.71C>A	XP_011539533.1:p.Pro24His
XM_011541226.2:c.587C>A	XP_011539528.1:p.Pro196His
XM_011541227.2:c.509C>A	XP_011539529.1:p.Pro170His
XM_011541228.2:c.476C>A	XP_011539530.1:p.Pro159His
XM_011541231.2:c.71C>A	XP_011539533.1:p.Pro24His
XM_024446338.1:c.476C>A	XP_024302106.1:p.Pro159His
NM_006623.4:c.365C>A MANE Select	NP_006614.2:p.Pro122His