Canonical Allele Identifier: CA420013885

Gene: PHGDH

Linked Data

• dbSNP Id: rs1404313686
• gnomAD v2: 1-120279787-T-C
• gnomAD v4: 1-119737164-T-C
• MyVariant Identifiers: chr1:g.120279787T>C (hg19) ; chr1:g.119737164T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119737164T>C , CM000663.2:g.119737164T>C	GRCh38
NC_000001.10:g.120279787T>C , CM000663.1:g.120279787T>C	GRCh37
NC_000001.9:g.120081310T>C	NCBI36
NG_009188.1:g.30369T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.843T>C	ENSP00000358417.5:p.Cys281=
ENST00000641023.2:c.843T>C MANE Select	ENSP00000493175.1:p.Cys281=
ENST00000641074.1:c.843T>C	ENSP00000493446.1:p.Cys281=
ENST00000641115.1:c.843T>C	ENSP00000493264.1:p.Cys281=
ENST00000641213.1:c.*496T>C	ENSP00000493079.1:n.*496T>C
ENST00000641314.1:n.828T>C
ENST00000641375.1:c.*679T>C	ENSP00000493089.1:n.*679T>C
ENST00000641597.1:c.843T>C	ENSP00000493382.1:p.Cys281=
ENST00000641756.1:c.*587T>C	ENSP00000493147.1:n.*587T>C
ENST00000641811.1:c.599T>C
ENST00000641891.1:c.*669T>C	ENSP00000493288.1:n.*669T>C
ENST00000641927.1:n.783T>C
ENST00000641947.1:c.843T>C	ENSP00000492994.1:p.Cys281=
ENST00000642021.1:n.965T>C
ENST00000369407.3:c.741T>C	ENSP00000358415.3:p.Cys247=
ENST00000369409.8:c.843T>C	ENSP00000358417.4:p.Cys281=
NM_006623.3:c.843T>C	NP_006614.2:p.Cys281=
XM_011541226.1:c.1065T>C	XP_011539528.1:p.Cys355=
XM_011541227.1:c.987T>C	XP_011539529.1:p.Cys329=
XM_011541228.1:c.954T>C	XP_011539530.1:p.Cys318=
XM_011541229.1:c.780T>C	XP_011539531.1:p.Cys260=
XM_011541230.1:c.558T>C	XP_011539532.1:p.Cys186=
XM_011541231.1:c.549T>C	XP_011539533.1:p.Cys183=
XM_011541226.2:c.1065T>C	XP_011539528.1:p.Cys355=
XM_011541227.2:c.987T>C	XP_011539529.1:p.Cys329=
XM_011541228.2:c.954T>C	XP_011539530.1:p.Cys318=
XM_011541231.2:c.549T>C	XP_011539533.1:p.Cys183=
XM_024446338.1:c.954T>C	XP_024302106.1:p.Cys318=
NM_006623.4:c.843T>C MANE Select	NP_006614.2:p.Cys281=