Canonical Allele Identifier: CA341847861

Gene: PHGDH

Linked Data

• MyVariant Identifiers: chr1:g.120269725G>C (hg19) ; chr1:g.119727102G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119727102G>C , CM000663.2:g.119727102G>C	GRCh38
NC_000001.10:g.120269725G>C , CM000663.1:g.120269725G>C	GRCh37
NC_000001.9:g.120071248G>C	NCBI36
NG_009188.1:g.20307G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.510G>C	ENSP00000358417.5:p.Lys170Asn
ENST00000462324.2:n.593G>C
ENST00000641023.2:c.510G>C MANE Select	ENSP00000493175.1:p.Lys170Asn
ENST00000641074.1:c.510G>C	ENSP00000493446.1:p.Lys170Asn
ENST00000641115.1:c.510G>C	ENSP00000493264.1:p.Lys170Asn
ENST00000641213.1:c.*163G>C	ENSP00000493079.1:n.*163G>C
ENST00000641247.1:c.*229G>C	ENSP00000492955.1:n.*229G>C
ENST00000641272.1:c.444G>C	ENSP00000493432.1:p.Lys148Asn
ENST00000641314.1:n.495G>C
ENST00000641371.1:c.424G>C	ENSP00000493305.1:p.Asp142His
ENST00000641375.1:c.*346G>C	ENSP00000493089.1:n.*346G>C
ENST00000641455.1:n.55G>C
ENST00000641491.1:c.*163G>C	ENSP00000493187.1:n.*163G>C
ENST00000641570.1:c.*229G>C	ENSP00000493213.1:n.*229G>C
ENST00000641573.1:n.598G>C
ENST00000641587.1:c.*221G>C	ENSP00000493453.1:n.*221G>C
ENST00000641597.1:c.510G>C	ENSP00000493382.1:p.Lys170Asn
ENST00000641756.1:c.*254G>C	ENSP00000493147.1:n.*254G>C
ENST00000641811.1:c.266G>C
ENST00000641847.1:n.369G>C
ENST00000641891.1:c.*336G>C	ENSP00000493288.1:n.*336G>C
ENST00000641927.1:n.450G>C
ENST00000641947.1:c.510G>C	ENSP00000492994.1:p.Lys170Asn
ENST00000642021.1:n.632G>C
ENST00000369407.3:c.408G>C	ENSP00000358415.3:p.Lys136Asn
ENST00000369409.8:c.510G>C	ENSP00000358417.4:p.Lys170Asn
ENST00000462324.1:n.778G>C
ENST00000493622.5:n.699G>C
NM_006623.3:c.510G>C	NP_006614.2:p.Lys170Asn
XM_011541226.1:c.732G>C	XP_011539528.1:p.Lys244Asn
XM_011541227.1:c.654G>C	XP_011539529.1:p.Lys218Asn
XM_011541228.1:c.621G>C	XP_011539530.1:p.Lys207Asn
XM_011541229.1:c.447G>C	XP_011539531.1:p.Lys149Asn
XM_011541230.1:c.225G>C	XP_011539532.1:p.Lys75Asn
XM_011541231.1:c.216G>C	XP_011539533.1:p.Lys72Asn
XM_011541226.2:c.732G>C	XP_011539528.1:p.Lys244Asn
XM_011541227.2:c.654G>C	XP_011539529.1:p.Lys218Asn
XM_011541228.2:c.621G>C	XP_011539530.1:p.Lys207Asn
XM_011541231.2:c.216G>C	XP_011539533.1:p.Lys72Asn
XM_024446338.1:c.621G>C	XP_024302106.1:p.Lys207Asn
NM_006623.4:c.510G>C MANE Select	NP_006614.2:p.Lys170Asn