Canonical Allele Identifier: CA341847839

Gene: PHGDH

Linked Data

• MyVariant Identifiers: chr1:g.120269715T>G (hg19) ; chr1:g.119727092T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119727092T>G , CM000663.2:g.119727092T>G	GRCh38
NC_000001.10:g.120269715T>G , CM000663.1:g.120269715T>G	GRCh37
NC_000001.9:g.120071238T>G	NCBI36
NG_009188.1:g.20297T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.500T>G	ENSP00000358417.5:p.Phe167Cys
ENST00000462324.2:n.583T>G
ENST00000641023.2:c.500T>G MANE Select	ENSP00000493175.1:p.Phe167Cys
ENST00000641074.1:c.500T>G	ENSP00000493446.1:p.Phe167Cys
ENST00000641115.1:c.500T>G	ENSP00000493264.1:p.Phe167Cys
ENST00000641213.1:c.*153T>G	ENSP00000493079.1:n.*153T>G
ENST00000641247.1:c.*219T>G	ENSP00000492955.1:n.*219T>G
ENST00000641272.1:c.434T>G	ENSP00000493432.1:p.Phe145Cys
ENST00000641314.1:n.485T>G
ENST00000641371.1:c.414T>G	ENSP00000493305.1:p.Leu138=
ENST00000641375.1:c.*336T>G	ENSP00000493089.1:n.*336T>G
ENST00000641455.1:n.45T>G
ENST00000641491.1:c.*153T>G	ENSP00000493187.1:n.*153T>G
ENST00000641570.1:c.*219T>G	ENSP00000493213.1:n.*219T>G
ENST00000641573.1:n.588T>G
ENST00000641587.1:c.*211T>G	ENSP00000493453.1:n.*211T>G
ENST00000641597.1:c.500T>G	ENSP00000493382.1:p.Phe167Cys
ENST00000641756.1:c.*244T>G	ENSP00000493147.1:n.*244T>G
ENST00000641811.1:c.256T>G
ENST00000641847.1:n.359T>G
ENST00000641891.1:c.*326T>G	ENSP00000493288.1:n.*326T>G
ENST00000641927.1:n.440T>G
ENST00000641947.1:c.500T>G	ENSP00000492994.1:p.Phe167Cys
ENST00000642021.1:n.622T>G
ENST00000369407.3:c.398T>G	ENSP00000358415.3:p.Phe133Cys
ENST00000369409.8:c.500T>G	ENSP00000358417.4:p.Phe167Cys
ENST00000462324.1:n.768T>G
ENST00000493622.5:n.689T>G
NM_006623.3:c.500T>G	NP_006614.2:p.Phe167Cys
XM_011541226.1:c.722T>G	XP_011539528.1:p.Phe241Cys
XM_011541227.1:c.644T>G	XP_011539529.1:p.Phe215Cys
XM_011541228.1:c.611T>G	XP_011539530.1:p.Phe204Cys
XM_011541229.1:c.437T>G	XP_011539531.1:p.Phe146Cys
XM_011541230.1:c.215T>G	XP_011539532.1:p.Phe72Cys
XM_011541231.1:c.206T>G	XP_011539533.1:p.Phe69Cys
XM_011541226.2:c.722T>G	XP_011539528.1:p.Phe241Cys
XM_011541227.2:c.644T>G	XP_011539529.1:p.Phe215Cys
XM_011541228.2:c.611T>G	XP_011539530.1:p.Phe204Cys
XM_011541231.2:c.206T>G	XP_011539533.1:p.Phe69Cys
XM_024446338.1:c.611T>G	XP_024302106.1:p.Phe204Cys
NM_006623.4:c.500T>G MANE Select	NP_006614.2:p.Phe167Cys