Canonical Allele Identifier: CA341847571

Gene: PHGDH

Linked Data

• MyVariant Identifiers: chr1:g.120269494C>A (hg19) ; chr1:g.119726871C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119726871C>A , CM000663.2:g.119726871C>A	GRCh38
NC_000001.10:g.120269494C>A , CM000663.1:g.120269494C>A	GRCh37
NC_000001.9:g.120071017C>A	NCBI36
NG_009188.1:g.20076C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.377C>A	ENSP00000358417.5:p.Ala126Asp
ENST00000462324.2:n.460C>A
ENST00000641023.2:c.377C>A MANE Select	ENSP00000493175.1:p.Ala126Asp
ENST00000641074.1:c.377C>A	ENSP00000493446.1:p.Ala126Asp
ENST00000641115.1:c.377C>A	ENSP00000493264.1:p.Ala126Asp
ENST00000641213.1:c.*30C>A	ENSP00000493079.1:n.*30C>A
ENST00000641247.1:c.*96C>A	ENSP00000492955.1:n.*96C>A
ENST00000641272.1:c.311C>A	ENSP00000493432.1:p.Ala104Asp
ENST00000641314.1:n.362C>A
ENST00000641371.1:c.291C>A	ENSP00000493305.1:p.Gly97=
ENST00000641375.1:c.*213C>A	ENSP00000493089.1:n.*213C>A
ENST00000641491.1:c.*30C>A	ENSP00000493187.1:n.*30C>A
ENST00000641513.1:c.*121C>A	ENSP00000493398.1:n.*121C>A
ENST00000641570.1:c.*96C>A	ENSP00000493213.1:n.*96C>A
ENST00000641573.1:n.465C>A
ENST00000641587.1:c.*88C>A	ENSP00000493453.1:n.*88C>A
ENST00000641597.1:c.377C>A	ENSP00000493382.1:p.Ala126Asp
ENST00000641711.1:n.601C>A
ENST00000641756.1:c.*121C>A	ENSP00000493147.1:n.*121C>A
ENST00000641811.1:c.133C>A
ENST00000641847.1:n.236C>A
ENST00000641891.1:c.*203C>A	ENSP00000493288.1:n.*203C>A
ENST00000641927.1:n.317C>A
ENST00000641947.1:c.377C>A	ENSP00000492994.1:p.Ala126Asp
ENST00000642021.1:n.499C>A
ENST00000642041.1:c.*416C>A	ENSP00000493415.1:n.*416C>A
ENST00000369407.3:c.275C>A	ENSP00000358415.3:p.Ala92Asp
ENST00000369409.8:c.377C>A	ENSP00000358417.4:p.Ala126Asp
ENST00000462324.1:n.645C>A
ENST00000493622.5:n.566C>A
NM_006623.3:c.377C>A	NP_006614.2:p.Ala126Asp
XM_011541226.1:c.599C>A	XP_011539528.1:p.Ala200Asp
XM_011541227.1:c.521C>A	XP_011539529.1:p.Ala174Asp
XM_011541228.1:c.488C>A	XP_011539530.1:p.Ala163Asp
XM_011541229.1:c.314C>A	XP_011539531.1:p.Ala105Asp
XM_011541230.1:c.92C>A	XP_011539532.1:p.Ala31Asp
XM_011541231.1:c.83C>A	XP_011539533.1:p.Ala28Asp
XM_011541226.2:c.599C>A	XP_011539528.1:p.Ala200Asp
XM_011541227.2:c.521C>A	XP_011539529.1:p.Ala174Asp
XM_011541228.2:c.488C>A	XP_011539530.1:p.Ala163Asp
XM_011541231.2:c.83C>A	XP_011539533.1:p.Ala28Asp
XM_024446338.1:c.488C>A	XP_024302106.1:p.Ala163Asp
NM_006623.4:c.377C>A MANE Select	NP_006614.2:p.Ala126Asp