Canonical Allele Identifier: CA341847530

Gene: PHGDH

Linked Data

• MyVariant Identifiers: chr1:g.120269474G>C (hg19) ; chr1:g.119726851G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119726851G>C , CM000663.2:g.119726851G>C	GRCh38
NC_000001.10:g.120269474G>C , CM000663.1:g.120269474G>C	GRCh37
NC_000001.9:g.120070997G>C	NCBI36
NG_009188.1:g.20056G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.357G>C	ENSP00000358417.5:p.Arg119Ser
ENST00000462324.2:n.440G>C
ENST00000641023.2:c.357G>C MANE Select	ENSP00000493175.1:p.Arg119Ser
ENST00000641074.1:c.357G>C	ENSP00000493446.1:p.Arg119Ser
ENST00000641115.1:c.357G>C	ENSP00000493264.1:p.Arg119Ser
ENST00000641213.1:c.*10G>C	ENSP00000493079.1:n.*10G>C
ENST00000641247.1:c.*76G>C	ENSP00000492955.1:n.*76G>C
ENST00000641272.1:c.291G>C	ENSP00000493432.1:p.Lys97Asn
ENST00000641314.1:n.342G>C
ENST00000641371.1:c.271G>C	ENSP00000493305.1:p.Ala91Pro
ENST00000641375.1:c.*193G>C	ENSP00000493089.1:n.*193G>C
ENST00000641491.1:c.*10G>C	ENSP00000493187.1:n.*10G>C
ENST00000641513.1:c.*101G>C	ENSP00000493398.1:n.*101G>C
ENST00000641570.1:c.*76G>C	ENSP00000493213.1:n.*76G>C
ENST00000641573.1:n.445G>C
ENST00000641587.1:c.*68G>C	ENSP00000493453.1:n.*68G>C
ENST00000641597.1:c.357G>C	ENSP00000493382.1:p.Arg119Ser
ENST00000641711.1:n.581G>C
ENST00000641756.1:c.*101G>C	ENSP00000493147.1:n.*101G>C
ENST00000641811.1:c.113G>C
ENST00000641847.1:n.216G>C
ENST00000641891.1:c.*183G>C	ENSP00000493288.1:n.*183G>C
ENST00000641927.1:n.297G>C
ENST00000641947.1:c.357G>C	ENSP00000492994.1:p.Arg119Ser
ENST00000642021.1:n.479G>C
ENST00000642041.1:c.*396G>C	ENSP00000493415.1:n.*396G>C
ENST00000369407.3:c.255G>C	ENSP00000358415.3:p.Arg85Ser
ENST00000369409.8:c.357G>C	ENSP00000358417.4:p.Arg119Ser
ENST00000462324.1:n.625G>C
ENST00000493622.5:n.546G>C
NM_006623.3:c.357G>C	NP_006614.2:p.Arg119Ser
XM_011541226.1:c.579G>C	XP_011539528.1:p.Arg193Ser
XM_011541227.1:c.501G>C	XP_011539529.1:p.Arg167Ser
XM_011541228.1:c.468G>C	XP_011539530.1:p.Arg156Ser
XM_011541229.1:c.294G>C	XP_011539531.1:p.Arg98Ser
XM_011541230.1:c.72G>C	XP_011539532.1:p.Arg24Ser
XM_011541231.1:c.63G>C	XP_011539533.1:p.Arg21Ser
XM_011541226.2:c.579G>C	XP_011539528.1:p.Arg193Ser
XM_011541227.2:c.501G>C	XP_011539529.1:p.Arg167Ser
XM_011541228.2:c.468G>C	XP_011539530.1:p.Arg156Ser
XM_011541231.2:c.63G>C	XP_011539533.1:p.Arg21Ser
XM_024446338.1:c.468G>C	XP_024302106.1:p.Arg156Ser
NM_006623.4:c.357G>C MANE Select	NP_006614.2:p.Arg119Ser