Canonical Allele Identifier: CA341851126

Gene: PHGDH

Linked Data

• gnomAD v4: 1-119737141-G-T
• COSMIC: COSM6257158 ; COSM6257159
• MyVariant Identifiers: chr1:g.120279764G>T (hg19) ; chr1:g.119737141G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119737141G>T , CM000663.2:g.119737141G>T	GRCh38
NC_000001.10:g.120279764G>T , CM000663.1:g.120279764G>T	GRCh37
NC_000001.9:g.120081287G>T	NCBI36
NG_009188.1:g.30346G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.820G>T	ENSP00000358417.5:p.Asp274Tyr
ENST00000469443.2:n.640G>T
ENST00000641023.2:c.820G>T MANE Select	ENSP00000493175.1:p.Asp274Tyr
ENST00000641074.1:c.820G>T	ENSP00000493446.1:p.Asp274Tyr
ENST00000641115.1:c.820G>T	ENSP00000493264.1:p.Asp274Tyr
ENST00000641213.1:c.*473G>T	ENSP00000493079.1:n.*473G>T
ENST00000641314.1:n.805G>T
ENST00000641375.1:c.*656G>T	ENSP00000493089.1:n.*656G>T
ENST00000641597.1:c.820G>T	ENSP00000493382.1:p.Asp274Tyr
ENST00000641756.1:c.*564G>T	ENSP00000493147.1:n.*564G>T
ENST00000641811.1:c.576G>T
ENST00000641891.1:c.*646G>T	ENSP00000493288.1:n.*646G>T
ENST00000641927.1:n.760G>T
ENST00000641947.1:c.820G>T	ENSP00000492994.1:p.Asp274Tyr
ENST00000642021.1:n.942G>T
ENST00000369407.3:c.718G>T	ENSP00000358415.3:p.Asp240Tyr
ENST00000369409.8:c.820G>T	ENSP00000358417.4:p.Asp274Tyr
NM_006623.3:c.820G>T	NP_006614.2:p.Asp274Tyr
XM_011541226.1:c.1042G>T	XP_011539528.1:p.Asp348Tyr
XM_011541227.1:c.964G>T	XP_011539529.1:p.Asp322Tyr
XM_011541228.1:c.931G>T	XP_011539530.1:p.Asp311Tyr
XM_011541229.1:c.757G>T	XP_011539531.1:p.Asp253Tyr
XM_011541230.1:c.535G>T	XP_011539532.1:p.Asp179Tyr
XM_011541231.1:c.526G>T	XP_011539533.1:p.Asp176Tyr
XM_011541226.2:c.1042G>T	XP_011539528.1:p.Asp348Tyr
XM_011541227.2:c.964G>T	XP_011539529.1:p.Asp322Tyr
XM_011541228.2:c.931G>T	XP_011539530.1:p.Asp311Tyr
XM_011541231.2:c.526G>T	XP_011539533.1:p.Asp176Tyr
XM_024446338.1:c.931G>T	XP_024302106.1:p.Asp311Tyr
NM_006623.4:c.820G>T MANE Select	NP_006614.2:p.Asp274Tyr