Canonical Allele Identifier: CA341847856

Gene: PHGDH

Linked Data

• MyVariant Identifiers: chr1:g.120269723A>C (hg19) ; chr1:g.119727100A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119727100A>C , CM000663.2:g.119727100A>C	GRCh38
NC_000001.10:g.120269723A>C , CM000663.1:g.120269723A>C	GRCh37
NC_000001.9:g.120071246A>C	NCBI36
NG_009188.1:g.20305A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.508A>C	ENSP00000358417.5:p.Lys170Gln
ENST00000462324.2:n.591A>C
ENST00000641023.2:c.508A>C MANE Select	ENSP00000493175.1:p.Lys170Gln
ENST00000641074.1:c.508A>C	ENSP00000493446.1:p.Lys170Gln
ENST00000641115.1:c.508A>C	ENSP00000493264.1:p.Lys170Gln
ENST00000641213.1:c.*161A>C	ENSP00000493079.1:n.*161A>C
ENST00000641247.1:c.*227A>C	ENSP00000492955.1:n.*227A>C
ENST00000641272.1:c.442A>C	ENSP00000493432.1:p.Lys148Gln
ENST00000641314.1:n.493A>C
ENST00000641371.1:c.422A>C	ENSP00000493305.1:p.Glu141Ala
ENST00000641375.1:c.*344A>C	ENSP00000493089.1:n.*344A>C
ENST00000641455.1:n.53A>C
ENST00000641491.1:c.*161A>C	ENSP00000493187.1:n.*161A>C
ENST00000641570.1:c.*227A>C	ENSP00000493213.1:n.*227A>C
ENST00000641573.1:n.596A>C
ENST00000641587.1:c.*219A>C	ENSP00000493453.1:n.*219A>C
ENST00000641597.1:c.508A>C	ENSP00000493382.1:p.Lys170Gln
ENST00000641756.1:c.*252A>C	ENSP00000493147.1:n.*252A>C
ENST00000641811.1:c.264A>C
ENST00000641847.1:n.367A>C
ENST00000641891.1:c.*334A>C	ENSP00000493288.1:n.*334A>C
ENST00000641927.1:n.448A>C
ENST00000641947.1:c.508A>C	ENSP00000492994.1:p.Lys170Gln
ENST00000642021.1:n.630A>C
ENST00000369407.3:c.406A>C	ENSP00000358415.3:p.Lys136Gln
ENST00000369409.8:c.508A>C	ENSP00000358417.4:p.Lys170Gln
ENST00000462324.1:n.776A>C
ENST00000493622.5:n.697A>C
NM_006623.3:c.508A>C	NP_006614.2:p.Lys170Gln
XM_011541226.1:c.730A>C	XP_011539528.1:p.Lys244Gln
XM_011541227.1:c.652A>C	XP_011539529.1:p.Lys218Gln
XM_011541228.1:c.619A>C	XP_011539530.1:p.Lys207Gln
XM_011541229.1:c.445A>C	XP_011539531.1:p.Lys149Gln
XM_011541230.1:c.223A>C	XP_011539532.1:p.Lys75Gln
XM_011541231.1:c.214A>C	XP_011539533.1:p.Lys72Gln
XM_011541226.2:c.730A>C	XP_011539528.1:p.Lys244Gln
XM_011541227.2:c.652A>C	XP_011539529.1:p.Lys218Gln
XM_011541228.2:c.619A>C	XP_011539530.1:p.Lys207Gln
XM_011541231.2:c.214A>C	XP_011539533.1:p.Lys72Gln
XM_024446338.1:c.619A>C	XP_024302106.1:p.Lys207Gln
NM_006623.4:c.508A>C MANE Select	NP_006614.2:p.Lys170Gln