Canonical Allele Identifier: CA341847859

Gene: PHGDH

Linked Data

• MyVariant Identifiers: chr1:g.120269724A>C (hg19) ; chr1:g.119727101A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119727101A>C , CM000663.2:g.119727101A>C	GRCh38
NC_000001.10:g.120269724A>C , CM000663.1:g.120269724A>C	GRCh37
NC_000001.9:g.120071247A>C	NCBI36
NG_009188.1:g.20306A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.509A>C	ENSP00000358417.5:p.Lys170Thr
ENST00000462324.2:n.592A>C
ENST00000641023.2:c.509A>C MANE Select	ENSP00000493175.1:p.Lys170Thr
ENST00000641074.1:c.509A>C	ENSP00000493446.1:p.Lys170Thr
ENST00000641115.1:c.509A>C	ENSP00000493264.1:p.Lys170Thr
ENST00000641213.1:c.*162A>C	ENSP00000493079.1:n.*162A>C
ENST00000641247.1:c.*228A>C	ENSP00000492955.1:n.*228A>C
ENST00000641272.1:c.443A>C	ENSP00000493432.1:p.Lys148Thr
ENST00000641314.1:n.494A>C
ENST00000641371.1:c.423A>C	ENSP00000493305.1:p.Glu141Asp
ENST00000641375.1:c.*345A>C	ENSP00000493089.1:n.*345A>C
ENST00000641455.1:n.54A>C
ENST00000641491.1:c.*162A>C	ENSP00000493187.1:n.*162A>C
ENST00000641570.1:c.*228A>C	ENSP00000493213.1:n.*228A>C
ENST00000641573.1:n.597A>C
ENST00000641587.1:c.*220A>C	ENSP00000493453.1:n.*220A>C
ENST00000641597.1:c.509A>C	ENSP00000493382.1:p.Lys170Thr
ENST00000641756.1:c.*253A>C	ENSP00000493147.1:n.*253A>C
ENST00000641811.1:c.265A>C
ENST00000641847.1:n.368A>C
ENST00000641891.1:c.*335A>C	ENSP00000493288.1:n.*335A>C
ENST00000641927.1:n.449A>C
ENST00000641947.1:c.509A>C	ENSP00000492994.1:p.Lys170Thr
ENST00000642021.1:n.631A>C
ENST00000369407.3:c.407A>C	ENSP00000358415.3:p.Lys136Thr
ENST00000369409.8:c.509A>C	ENSP00000358417.4:p.Lys170Thr
ENST00000462324.1:n.777A>C
ENST00000493622.5:n.698A>C
NM_006623.3:c.509A>C	NP_006614.2:p.Lys170Thr
XM_011541226.1:c.731A>C	XP_011539528.1:p.Lys244Thr
XM_011541227.1:c.653A>C	XP_011539529.1:p.Lys218Thr
XM_011541228.1:c.620A>C	XP_011539530.1:p.Lys207Thr
XM_011541229.1:c.446A>C	XP_011539531.1:p.Lys149Thr
XM_011541230.1:c.224A>C	XP_011539532.1:p.Lys75Thr
XM_011541231.1:c.215A>C	XP_011539533.1:p.Lys72Thr
XM_011541226.2:c.731A>C	XP_011539528.1:p.Lys244Thr
XM_011541227.2:c.653A>C	XP_011539529.1:p.Lys218Thr
XM_011541228.2:c.620A>C	XP_011539530.1:p.Lys207Thr
XM_011541231.2:c.215A>C	XP_011539533.1:p.Lys72Thr
XM_024446338.1:c.620A>C	XP_024302106.1:p.Lys207Thr
NM_006623.4:c.509A>C MANE Select	NP_006614.2:p.Lys170Thr