Canonical Allele Identifier: CA2580060915

Gene: PHGDH

Linked Data

• ClinVar Variation Id: 2139824
• ClinVar RCV Id: RCV003066693

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119726836T>C , CM000663.2:g.119726836T>C	GRCh38
NC_000001.10:g.120269459T>C , CM000663.1:g.120269459T>C	GRCh37
NC_000001.9:g.120070982T>C	NCBI36
NG_009188.1:g.20041T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.357-15T>C	ENSP00000358417.5:n.357-15T>C
ENST00000462324.2:n.440-15T>C
ENST00000641023.2:c.357-15T>C MANE Select	ENSP00000493175.1:n.357-15T>C
ENST00000641074.1:c.357-15T>C	ENSP00000493446.1:n.357-15T>C
ENST00000641115.1:c.357-15T>C	ENSP00000493264.1:n.357-15T>C
ENST00000641213.1:c.*10-15T>C	ENSP00000493079.1:n.*10-15T>C
ENST00000641247.1:c.*76-15T>C	ENSP00000492955.1:n.*76-15T>C
ENST00000641272.1:c.291-15T>C	ENSP00000493432.1:n.291-15T>C
ENST00000641314.1:n.342-15T>C
ENST00000641371.1:c.271-15T>C	ENSP00000493305.1:n.271-15T>C
ENST00000641375.1:c.*193-15T>C	ENSP00000493089.1:n.*193-15T>C
ENST00000641491.1:c.*10-15T>C	ENSP00000493187.1:n.*10-15T>C
ENST00000641513.1:c.*101-15T>C	ENSP00000493398.1:n.*101-15T>C
ENST00000641570.1:c.*76-15T>C	ENSP00000493213.1:n.*76-15T>C
ENST00000641573.1:n.445-15T>C
ENST00000641587.1:c.*68-15T>C	ENSP00000493453.1:n.*68-15T>C
ENST00000641597.1:c.357-15T>C	ENSP00000493382.1:n.357-15T>C
ENST00000641711.1:n.581-15T>C
ENST00000641756.1:c.*101-15T>C	ENSP00000493147.1:n.*101-15T>C
ENST00000641811.1:c.113-15T>C
ENST00000641847.1:n.201T>C
ENST00000641891.1:c.*183-15T>C	ENSP00000493288.1:n.*183-15T>C
ENST00000641927.1:n.297-15T>C
ENST00000641947.1:c.357-15T>C	ENSP00000492994.1:n.357-15T>C
ENST00000642021.1:n.479-15T>C
ENST00000642041.1:c.*396-15T>C	ENSP00000493415.1:n.*396-15T>C
ENST00000369407.3:c.255-15T>C	ENSP00000358415.3:n.255-15T>C
ENST00000369409.8:c.357-15T>C	ENSP00000358417.4:n.357-15T>C
ENST00000462324.1:n.625-15T>C
ENST00000493622.5:n.546-15T>C
NM_006623.3:c.357-15T>C	NP_006614.2:n.357-15T>C
XM_011541226.1:c.579-15T>C	XP_011539528.1:n.579-15T>C
XM_011541227.1:c.501-15T>C	XP_011539529.1:n.501-15T>C
XM_011541228.1:c.468-15T>C	XP_011539530.1:n.468-15T>C
XM_011541229.1:c.294-15T>C	XP_011539531.1:n.294-15T>C
XM_011541230.1:c.72-15T>C	XP_011539532.1:n.72-15T>C
XM_011541231.1:c.63-15T>C	XP_011539533.1:n.63-15T>C
XM_011541226.2:c.579-15T>C	XP_011539528.1:n.579-15T>C
XM_011541227.2:c.501-15T>C	XP_011539529.1:n.501-15T>C
XM_011541228.2:c.468-15T>C	XP_011539530.1:n.468-15T>C
XM_011541231.2:c.63-15T>C	XP_011539533.1:n.63-15T>C
XM_024446338.1:c.468-15T>C	XP_024302106.1:n.468-15T>C
NM_006623.4:c.357-15T>C MANE Select	NP_006614.2:n.357-15T>C