Canonical Allele Identifier: CA420013742

Gene: PHGDH

Linked Data

• MyVariant Identifiers: chr1:g.120279757C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119737134C>G , CM000663.2:g.119737134C>G	GRCh38
NC_000001.10:g.120279757C>G , CM000663.1:g.120279757C>G	GRCh37
NC_000001.9:g.120081280C>G	NCBI36
NG_009188.1:g.30339C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.813C>G	ENSP00000358417.5:p.Ala271=
ENST00000469443.2:n.633C>G
ENST00000641023.2:c.813C>G MANE Select	ENSP00000493175.1:p.Ala271=
ENST00000641074.1:c.813C>G	ENSP00000493446.1:p.Ala271=
ENST00000641115.1:c.813C>G	ENSP00000493264.1:p.Ala271=
ENST00000641213.1:c.*466C>G	ENSP00000493079.1:n.*466C>G
ENST00000641314.1:n.798C>G
ENST00000641375.1:c.*649C>G	ENSP00000493089.1:n.*649C>G
ENST00000641597.1:c.813C>G	ENSP00000493382.1:p.Ala271=
ENST00000641756.1:c.*557C>G	ENSP00000493147.1:n.*557C>G
ENST00000641811.1:c.569C>G
ENST00000641891.1:c.*639C>G	ENSP00000493288.1:n.*639C>G
ENST00000641927.1:n.753C>G
ENST00000641947.1:c.813C>G	ENSP00000492994.1:p.Ala271=
ENST00000642021.1:n.935C>G
ENST00000369407.3:c.711C>G	ENSP00000358415.3:p.Ala237=
ENST00000369409.8:c.813C>G	ENSP00000358417.4:p.Ala271=
NM_006623.3:c.813C>G	NP_006614.2:p.Ala271=
XM_011541226.1:c.1035C>G	XP_011539528.1:p.Ala345=
XM_011541227.1:c.957C>G	XP_011539529.1:p.Ala319=
XM_011541228.1:c.924C>G	XP_011539530.1:p.Ala308=
XM_011541229.1:c.750C>G	XP_011539531.1:p.Ala250=
XM_011541230.1:c.528C>G	XP_011539532.1:p.Ala176=
XM_011541231.1:c.519C>G	XP_011539533.1:p.Ala173=
XM_011541226.2:c.1035C>G	XP_011539528.1:p.Ala345=
XM_011541227.2:c.957C>G	XP_011539529.1:p.Ala319=
XM_011541228.2:c.924C>G	XP_011539530.1:p.Ala308=
XM_011541231.2:c.519C>G	XP_011539533.1:p.Ala173=
XM_024446338.1:c.924C>G	XP_024302106.1:p.Ala308=
NM_006623.4:c.813C>G MANE Select	NP_006614.2:p.Ala271=