Canonical Allele Identifier: CA341851361

Gene: PHGDH

Linked Data

• MyVariant Identifiers: chr1:g.120279834A>C (hg19) ; chr1:g.119737211A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119737211A>C , CM000663.2:g.119737211A>C	GRCh38
NC_000001.10:g.120279834A>C , CM000663.1:g.120279834A>C	GRCh37
NC_000001.9:g.120081357A>C	NCBI36
NG_009188.1:g.30416A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.890A>C	ENSP00000358417.5:p.Glu297Ala
ENST00000641023.2:c.890A>C MANE Select	ENSP00000493175.1:p.Glu297Ala
ENST00000641074.1:c.890A>C	ENSP00000493446.1:p.Glu297Ala
ENST00000641115.1:c.890A>C	ENSP00000493264.1:p.Glu297Ala
ENST00000641213.1:c.*543A>C	ENSP00000493079.1:n.*543A>C
ENST00000641314.1:n.875A>C
ENST00000641375.1:c.*726A>C	ENSP00000493089.1:n.*726A>C
ENST00000641597.1:c.890A>C	ENSP00000493382.1:p.Glu297Ala
ENST00000641756.1:c.*634A>C	ENSP00000493147.1:n.*634A>C
ENST00000641811.1:c.646A>C
ENST00000641891.1:c.*716A>C	ENSP00000493288.1:n.*716A>C
ENST00000641927.1:n.830A>C
ENST00000641947.1:c.890A>C	ENSP00000492994.1:p.Glu297Ala
ENST00000642021.1:n.1012A>C
ENST00000369407.3:c.788A>C	ENSP00000358415.3:p.Glu263Ala
ENST00000369409.8:c.890A>C	ENSP00000358417.4:p.Glu297Ala
NM_006623.3:c.890A>C	NP_006614.2:p.Glu297Ala
XM_011541226.1:c.1112A>C	XP_011539528.1:p.Glu371Ala
XM_011541227.1:c.1034A>C	XP_011539529.1:p.Glu345Ala
XM_011541228.1:c.1001A>C	XP_011539530.1:p.Glu334Ala
XM_011541229.1:c.827A>C	XP_011539531.1:p.Glu276Ala
XM_011541230.1:c.605A>C	XP_011539532.1:p.Glu202Ala
XM_011541231.1:c.596A>C	XP_011539533.1:p.Glu199Ala
XM_011541226.2:c.1112A>C	XP_011539528.1:p.Glu371Ala
XM_011541227.2:c.1034A>C	XP_011539529.1:p.Glu345Ala
XM_011541228.2:c.1001A>C	XP_011539530.1:p.Glu334Ala
XM_011541231.2:c.596A>C	XP_011539533.1:p.Glu199Ala
XM_024446338.1:c.1001A>C	XP_024302106.1:p.Glu334Ala
NM_006623.4:c.890A>C MANE Select	NP_006614.2:p.Glu297Ala