Canonical Allele Identifier: CA341851139

Gene: PHGDH

Linked Data

• MyVariant Identifiers: chr1:g.120279770G>A (hg19) ; chr1:g.119737147G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119737147G>A , CM000663.2:g.119737147G>A	GRCh38
NC_000001.10:g.120279770G>A , CM000663.1:g.120279770G>A	GRCh37
NC_000001.9:g.120081293G>A	NCBI36
NG_009188.1:g.30352G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.826G>A	ENSP00000358417.5:p.Glu276Lys
ENST00000469443.2:n.646G>A
ENST00000641023.2:c.826G>A MANE Select	ENSP00000493175.1:p.Glu276Lys
ENST00000641074.1:c.826G>A	ENSP00000493446.1:p.Glu276Lys
ENST00000641115.1:c.826G>A	ENSP00000493264.1:p.Glu276Lys
ENST00000641213.1:c.*479G>A	ENSP00000493079.1:n.*479G>A
ENST00000641314.1:n.811G>A
ENST00000641375.1:c.*662G>A	ENSP00000493089.1:n.*662G>A
ENST00000641597.1:c.826G>A	ENSP00000493382.1:p.Glu276Lys
ENST00000641756.1:c.*570G>A	ENSP00000493147.1:n.*570G>A
ENST00000641811.1:c.582G>A
ENST00000641891.1:c.*652G>A	ENSP00000493288.1:n.*652G>A
ENST00000641927.1:n.766G>A
ENST00000641947.1:c.826G>A	ENSP00000492994.1:p.Glu276Lys
ENST00000642021.1:n.948G>A
ENST00000369407.3:c.724G>A	ENSP00000358415.3:p.Glu242Lys
ENST00000369409.8:c.826G>A	ENSP00000358417.4:p.Glu276Lys
NM_006623.3:c.826G>A	NP_006614.2:p.Glu276Lys
XM_011541226.1:c.1048G>A	XP_011539528.1:p.Glu350Lys
XM_011541227.1:c.970G>A	XP_011539529.1:p.Glu324Lys
XM_011541228.1:c.937G>A	XP_011539530.1:p.Glu313Lys
XM_011541229.1:c.763G>A	XP_011539531.1:p.Glu255Lys
XM_011541230.1:c.541G>A	XP_011539532.1:p.Glu181Lys
XM_011541231.1:c.532G>A	XP_011539533.1:p.Glu178Lys
XM_011541226.2:c.1048G>A	XP_011539528.1:p.Glu350Lys
XM_011541227.2:c.970G>A	XP_011539529.1:p.Glu324Lys
XM_011541228.2:c.937G>A	XP_011539530.1:p.Glu313Lys
XM_011541231.2:c.532G>A	XP_011539533.1:p.Glu178Lys
XM_024446338.1:c.937G>A	XP_024302106.1:p.Glu313Lys
NM_006623.4:c.826G>A MANE Select	NP_006614.2:p.Glu276Lys