Canonical Allele Identifier: CA341847639

Gene: PHGDH

Linked Data

• MyVariant Identifiers: chr1:g.120269526A>C (hg19) ; chr1:g.119726903A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119726903A>C , CM000663.2:g.119726903A>C	GRCh38
NC_000001.10:g.120269526A>C , CM000663.1:g.120269526A>C	GRCh37
NC_000001.9:g.120071049A>C	NCBI36
NG_009188.1:g.20108A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000369409.9:c.409A>C	ENSP00000358417.5:p.Lys137Gln
ENST00000462324.2:n.492A>C
ENST00000641023.2:c.409A>C MANE Select	ENSP00000493175.1:p.Lys137Gln
ENST00000641074.1:c.409A>C	ENSP00000493446.1:p.Lys137Gln
ENST00000641115.1:c.409A>C	ENSP00000493264.1:p.Lys137Gln
ENST00000641213.1:c.*62A>C	ENSP00000493079.1:n.*62A>C
ENST00000641247.1:c.*128A>C	ENSP00000492955.1:n.*128A>C
ENST00000641272.1:c.343A>C	ENSP00000493432.1:p.Lys115Gln
ENST00000641314.1:n.394A>C
ENST00000641371.1:c.323A>C	ENSP00000493305.1:p.Glu108Ala
ENST00000641375.1:c.*245A>C	ENSP00000493089.1:n.*245A>C
ENST00000641491.1:c.*62A>C	ENSP00000493187.1:n.*62A>C
ENST00000641570.1:c.*128A>C	ENSP00000493213.1:n.*128A>C
ENST00000641573.1:n.497A>C
ENST00000641587.1:c.*120A>C	ENSP00000493453.1:n.*120A>C
ENST00000641597.1:c.409A>C	ENSP00000493382.1:p.Lys137Gln
ENST00000641711.1:n.633A>C
ENST00000641756.1:c.*153A>C	ENSP00000493147.1:n.*153A>C
ENST00000641811.1:c.165A>C
ENST00000641847.1:n.268A>C
ENST00000641891.1:c.*235A>C	ENSP00000493288.1:n.*235A>C
ENST00000641927.1:n.349A>C
ENST00000641947.1:c.409A>C	ENSP00000492994.1:p.Lys137Gln
ENST00000642021.1:n.531A>C
ENST00000642041.1:c.*448A>C	ENSP00000493415.1:n.*448A>C
ENST00000369407.3:c.307A>C	ENSP00000358415.3:p.Lys103Gln
ENST00000369409.8:c.409A>C	ENSP00000358417.4:p.Lys137Gln
ENST00000462324.1:n.677A>C
ENST00000493622.5:n.598A>C
NM_006623.3:c.409A>C	NP_006614.2:p.Lys137Gln
XM_011541226.1:c.631A>C	XP_011539528.1:p.Lys211Gln
XM_011541227.1:c.553A>C	XP_011539529.1:p.Lys185Gln
XM_011541228.1:c.520A>C	XP_011539530.1:p.Lys174Gln
XM_011541229.1:c.346A>C	XP_011539531.1:p.Lys116Gln
XM_011541230.1:c.124A>C	XP_011539532.1:p.Lys42Gln
XM_011541231.1:c.115A>C	XP_011539533.1:p.Lys39Gln
XM_011541226.2:c.631A>C	XP_011539528.1:p.Lys211Gln
XM_011541227.2:c.553A>C	XP_011539529.1:p.Lys185Gln
XM_011541228.2:c.520A>C	XP_011539530.1:p.Lys174Gln
XM_011541231.2:c.115A>C	XP_011539533.1:p.Lys39Gln
XM_024446338.1:c.520A>C	XP_024302106.1:p.Lys174Gln
NM_006623.4:c.409A>C MANE Select	NP_006614.2:p.Lys137Gln