Canonical Allele Identifier: CA1037269

Gene: PHGDH

Linked Data

• ClinVar Variation Id: 1029062
• ClinVar RCV Id: RCV001330263 ; RCV002546379
• dbSNP Id: rs142622658
• ExAC: 1:120279746 C / T
• gnomAD v2: 1-120279746-C-T
• gnomAD v3: 1-119737123-C-T
• gnomAD v4: 1-119737123-C-T
• MyVariant Identifiers: chr1:g.120279746C>T (hg19) ; chr1:g.119737123C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119737123C>T , CM000663.2:g.119737123C>T	GRCh38
NC_000001.10:g.120279746C>T , CM000663.1:g.120279746C>T	GRCh37
NC_000001.9:g.120081269C>T	NCBI36
NG_009188.1:g.30328C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.802C>T	ENSP00000358417.5:p.Arg268Trp
ENST00000469443.2:n.622C>T
ENST00000641023.2:c.802C>T MANE Select	ENSP00000493175.1:p.Arg268Trp
ENST00000641074.1:c.802C>T	ENSP00000493446.1:p.Arg268Trp
ENST00000641115.1:c.802C>T	ENSP00000493264.1:p.Arg268Trp
ENST00000641213.1:c.*455C>T	ENSP00000493079.1:n.*455C>T
ENST00000641314.1:n.787C>T
ENST00000641375.1:c.*638C>T	ENSP00000493089.1:n.*638C>T
ENST00000641597.1:c.802C>T	ENSP00000493382.1:p.Arg268Trp
ENST00000641756.1:c.*546C>T	ENSP00000493147.1:n.*546C>T
ENST00000641811.1:c.558C>T
ENST00000641891.1:c.*628C>T	ENSP00000493288.1:n.*628C>T
ENST00000641927.1:n.742C>T
ENST00000641947.1:c.802C>T	ENSP00000492994.1:p.Arg268Trp
ENST00000642021.1:n.924C>T
ENST00000369407.3:c.700C>T	ENSP00000358415.3:p.Arg234Trp
ENST00000369409.8:c.802C>T	ENSP00000358417.4:p.Arg268Trp
NM_006623.3:c.802C>T	NP_006614.2:p.Arg268Trp
XM_011541226.1:c.1024C>T	XP_011539528.1:p.Arg342Trp
XM_011541227.1:c.946C>T	XP_011539529.1:p.Arg316Trp
XM_011541228.1:c.913C>T	XP_011539530.1:p.Arg305Trp
XM_011541229.1:c.739C>T	XP_011539531.1:p.Arg247Trp
XM_011541230.1:c.517C>T	XP_011539532.1:p.Arg173Trp
XM_011541231.1:c.508C>T	XP_011539533.1:p.Arg170Trp
XM_011541226.2:c.1024C>T	XP_011539528.1:p.Arg342Trp
XM_011541227.2:c.946C>T	XP_011539529.1:p.Arg316Trp
XM_011541228.2:c.913C>T	XP_011539530.1:p.Arg305Trp
XM_011541231.2:c.508C>T	XP_011539533.1:p.Arg170Trp
XM_024446338.1:c.913C>T	XP_024302106.1:p.Arg305Trp
NM_006623.4:c.802C>T MANE Select	NP_006614.2:p.Arg268Trp