Canonical Allele Identifier: CA341851099

Gene: PHGDH

Linked Data

• gnomAD v4: 1-119737127-A-G
• MyVariant Identifiers: chr1:g.120279750A>G (hg19) ; chr1:g.119737127A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119737127A>G , CM000663.2:g.119737127A>G	GRCh38
NC_000001.10:g.120279750A>G , CM000663.1:g.120279750A>G	GRCh37
NC_000001.9:g.120081273A>G	NCBI36
NG_009188.1:g.30332A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.806A>G	ENSP00000358417.5:p.Asp269Gly
ENST00000469443.2:n.626A>G
ENST00000641023.2:c.806A>G MANE Select	ENSP00000493175.1:p.Asp269Gly
ENST00000641074.1:c.806A>G	ENSP00000493446.1:p.Asp269Gly
ENST00000641115.1:c.806A>G	ENSP00000493264.1:p.Asp269Gly
ENST00000641213.1:c.*459A>G	ENSP00000493079.1:n.*459A>G
ENST00000641314.1:n.791A>G
ENST00000641375.1:c.*642A>G	ENSP00000493089.1:n.*642A>G
ENST00000641597.1:c.806A>G	ENSP00000493382.1:p.Asp269Gly
ENST00000641756.1:c.*550A>G	ENSP00000493147.1:n.*550A>G
ENST00000641811.1:c.562A>G
ENST00000641891.1:c.*632A>G	ENSP00000493288.1:n.*632A>G
ENST00000641927.1:n.746A>G
ENST00000641947.1:c.806A>G	ENSP00000492994.1:p.Asp269Gly
ENST00000642021.1:n.928A>G
ENST00000369407.3:c.704A>G	ENSP00000358415.3:p.Asp235Gly
ENST00000369409.8:c.806A>G	ENSP00000358417.4:p.Asp269Gly
NM_006623.3:c.806A>G	NP_006614.2:p.Asp269Gly
XM_011541226.1:c.1028A>G	XP_011539528.1:p.Asp343Gly
XM_011541227.1:c.950A>G	XP_011539529.1:p.Asp317Gly
XM_011541228.1:c.917A>G	XP_011539530.1:p.Asp306Gly
XM_011541229.1:c.743A>G	XP_011539531.1:p.Asp248Gly
XM_011541230.1:c.521A>G	XP_011539532.1:p.Asp174Gly
XM_011541231.1:c.512A>G	XP_011539533.1:p.Asp171Gly
XM_011541226.2:c.1028A>G	XP_011539528.1:p.Asp343Gly
XM_011541227.2:c.950A>G	XP_011539529.1:p.Asp317Gly
XM_011541228.2:c.917A>G	XP_011539530.1:p.Asp306Gly
XM_011541231.2:c.512A>G	XP_011539533.1:p.Asp171Gly
XM_024446338.1:c.917A>G	XP_024302106.1:p.Asp306Gly
NM_006623.4:c.806A>G MANE Select	NP_006614.2:p.Asp269Gly