Canonical Allele Identifier: CA341851189

Gene: PHGDH

Linked Data

• MyVariant Identifiers: chr1:g.120279785T>C (hg19) ; chr1:g.119737162T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119737162T>C , CM000663.2:g.119737162T>C	GRCh38
NC_000001.10:g.120279785T>C , CM000663.1:g.120279785T>C	GRCh37
NC_000001.9:g.120081308T>C	NCBI36
NG_009188.1:g.30367T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.841T>C	ENSP00000358417.5:p.Cys281Arg
ENST00000641023.2:c.841T>C MANE Select	ENSP00000493175.1:p.Cys281Arg
ENST00000641074.1:c.841T>C	ENSP00000493446.1:p.Cys281Arg
ENST00000641115.1:c.841T>C	ENSP00000493264.1:p.Cys281Arg
ENST00000641213.1:c.*494T>C	ENSP00000493079.1:n.*494T>C
ENST00000641314.1:n.826T>C
ENST00000641375.1:c.*677T>C	ENSP00000493089.1:n.*677T>C
ENST00000641597.1:c.841T>C	ENSP00000493382.1:p.Cys281Arg
ENST00000641756.1:c.*585T>C	ENSP00000493147.1:n.*585T>C
ENST00000641811.1:c.597T>C
ENST00000641891.1:c.*667T>C	ENSP00000493288.1:n.*667T>C
ENST00000641927.1:n.781T>C
ENST00000641947.1:c.841T>C	ENSP00000492994.1:p.Cys281Arg
ENST00000642021.1:n.963T>C
ENST00000369407.3:c.739T>C	ENSP00000358415.3:p.Cys247Arg
ENST00000369409.8:c.841T>C	ENSP00000358417.4:p.Cys281Arg
NM_006623.3:c.841T>C	NP_006614.2:p.Cys281Arg
XM_011541226.1:c.1063T>C	XP_011539528.1:p.Cys355Arg
XM_011541227.1:c.985T>C	XP_011539529.1:p.Cys329Arg
XM_011541228.1:c.952T>C	XP_011539530.1:p.Cys318Arg
XM_011541229.1:c.778T>C	XP_011539531.1:p.Cys260Arg
XM_011541230.1:c.556T>C	XP_011539532.1:p.Cys186Arg
XM_011541231.1:c.547T>C	XP_011539533.1:p.Cys183Arg
XM_011541226.2:c.1063T>C	XP_011539528.1:p.Cys355Arg
XM_011541227.2:c.985T>C	XP_011539529.1:p.Cys329Arg
XM_011541228.2:c.952T>C	XP_011539530.1:p.Cys318Arg
XM_011541231.2:c.547T>C	XP_011539533.1:p.Cys183Arg
XM_024446338.1:c.952T>C	XP_024302106.1:p.Cys318Arg
NM_006623.4:c.841T>C MANE Select	NP_006614.2:p.Cys281Arg