Canonical Allele Identifier: CA341847552

Gene: PHGDH

Linked Data

• MyVariant Identifiers: chr1:g.120269484C>A (hg19) ; chr1:g.119726861C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119726861C>A , CM000663.2:g.119726861C>A	GRCh38
NC_000001.10:g.120269484C>A , CM000663.1:g.120269484C>A	GRCh37
NC_000001.9:g.120071007C>A	NCBI36
NG_009188.1:g.20066C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.367C>A	ENSP00000358417.5:p.Gln123Lys
ENST00000462324.2:n.450C>A
ENST00000641023.2:c.367C>A MANE Select	ENSP00000493175.1:p.Gln123Lys
ENST00000641074.1:c.367C>A	ENSP00000493446.1:p.Gln123Lys
ENST00000641115.1:c.367C>A	ENSP00000493264.1:p.Gln123Lys
ENST00000641213.1:c.*20C>A	ENSP00000493079.1:n.*20C>A
ENST00000641247.1:c.*86C>A	ENSP00000492955.1:n.*86C>A
ENST00000641272.1:c.301C>A	ENSP00000493432.1:p.Gln101Lys
ENST00000641314.1:n.352C>A
ENST00000641371.1:c.281C>A	ENSP00000493305.1:p.Pro94Gln
ENST00000641375.1:c.*203C>A	ENSP00000493089.1:n.*203C>A
ENST00000641491.1:c.*20C>A	ENSP00000493187.1:n.*20C>A
ENST00000641513.1:c.*111C>A	ENSP00000493398.1:n.*111C>A
ENST00000641570.1:c.*86C>A	ENSP00000493213.1:n.*86C>A
ENST00000641573.1:n.455C>A
ENST00000641587.1:c.*78C>A	ENSP00000493453.1:n.*78C>A
ENST00000641597.1:c.367C>A	ENSP00000493382.1:p.Gln123Lys
ENST00000641711.1:n.591C>A
ENST00000641756.1:c.*111C>A	ENSP00000493147.1:n.*111C>A
ENST00000641811.1:c.123C>A
ENST00000641847.1:n.226C>A
ENST00000641891.1:c.*193C>A	ENSP00000493288.1:n.*193C>A
ENST00000641927.1:n.307C>A
ENST00000641947.1:c.367C>A	ENSP00000492994.1:p.Gln123Lys
ENST00000642021.1:n.489C>A
ENST00000642041.1:c.*406C>A	ENSP00000493415.1:n.*406C>A
ENST00000369407.3:c.265C>A	ENSP00000358415.3:p.Gln89Lys
ENST00000369409.8:c.367C>A	ENSP00000358417.4:p.Gln123Lys
ENST00000462324.1:n.635C>A
ENST00000493622.5:n.556C>A
NM_006623.3:c.367C>A	NP_006614.2:p.Gln123Lys
XM_011541226.1:c.589C>A	XP_011539528.1:p.Gln197Lys
XM_011541227.1:c.511C>A	XP_011539529.1:p.Gln171Lys
XM_011541228.1:c.478C>A	XP_011539530.1:p.Gln160Lys
XM_011541229.1:c.304C>A	XP_011539531.1:p.Gln102Lys
XM_011541230.1:c.82C>A	XP_011539532.1:p.Gln28Lys
XM_011541231.1:c.73C>A	XP_011539533.1:p.Gln25Lys
XM_011541226.2:c.589C>A	XP_011539528.1:p.Gln197Lys
XM_011541227.2:c.511C>A	XP_011539529.1:p.Gln171Lys
XM_011541228.2:c.478C>A	XP_011539530.1:p.Gln160Lys
XM_011541231.2:c.73C>A	XP_011539533.1:p.Gln25Lys
XM_024446338.1:c.478C>A	XP_024302106.1:p.Gln160Lys
NM_006623.4:c.367C>A MANE Select	NP_006614.2:p.Gln123Lys