Canonical Allele Identifier: CA341847634

Gene: PHGDH

Linked Data

• MyVariant Identifiers: chr1:g.120269524A>C (hg19) ; chr1:g.119726901A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119726901A>C , CM000663.2:g.119726901A>C	GRCh38
NC_000001.10:g.120269524A>C , CM000663.1:g.120269524A>C	GRCh37
NC_000001.9:g.120071047A>C	NCBI36
NG_009188.1:g.20106A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000369409.9:c.407A>C	ENSP00000358417.5:p.Lys136Thr
ENST00000462324.2:n.490A>C
ENST00000641023.2:c.407A>C MANE Select	ENSP00000493175.1:p.Lys136Thr
ENST00000641074.1:c.407A>C	ENSP00000493446.1:p.Lys136Thr
ENST00000641115.1:c.407A>C	ENSP00000493264.1:p.Lys136Thr
ENST00000641213.1:c.*60A>C	ENSP00000493079.1:n.*60A>C
ENST00000641247.1:c.*126A>C	ENSP00000492955.1:n.*126A>C
ENST00000641272.1:c.341A>C	ENSP00000493432.1:p.Lys114Thr
ENST00000641314.1:n.392A>C
ENST00000641371.1:c.321A>C	ENSP00000493305.1:p.Glu107Asp
ENST00000641375.1:c.*243A>C	ENSP00000493089.1:n.*243A>C
ENST00000641491.1:c.*60A>C	ENSP00000493187.1:n.*60A>C
ENST00000641570.1:c.*126A>C	ENSP00000493213.1:n.*126A>C
ENST00000641573.1:n.495A>C
ENST00000641587.1:c.*118A>C	ENSP00000493453.1:n.*118A>C
ENST00000641597.1:c.407A>C	ENSP00000493382.1:p.Lys136Thr
ENST00000641711.1:n.631A>C
ENST00000641756.1:c.*151A>C	ENSP00000493147.1:n.*151A>C
ENST00000641811.1:c.163A>C
ENST00000641847.1:n.266A>C
ENST00000641891.1:c.*233A>C	ENSP00000493288.1:n.*233A>C
ENST00000641927.1:n.347A>C
ENST00000641947.1:c.407A>C	ENSP00000492994.1:p.Lys136Thr
ENST00000642021.1:n.529A>C
ENST00000642041.1:c.*446A>C	ENSP00000493415.1:n.*446A>C
ENST00000369407.3:c.305A>C	ENSP00000358415.3:p.Lys102Thr
ENST00000369409.8:c.407A>C	ENSP00000358417.4:p.Lys136Thr
ENST00000462324.1:n.675A>C
ENST00000493622.5:n.596A>C
NM_006623.3:c.407A>C	NP_006614.2:p.Lys136Thr
XM_011541226.1:c.629A>C	XP_011539528.1:p.Lys210Thr
XM_011541227.1:c.551A>C	XP_011539529.1:p.Lys184Thr
XM_011541228.1:c.518A>C	XP_011539530.1:p.Lys173Thr
XM_011541229.1:c.344A>C	XP_011539531.1:p.Lys115Thr
XM_011541230.1:c.122A>C	XP_011539532.1:p.Lys41Thr
XM_011541231.1:c.113A>C	XP_011539533.1:p.Lys38Thr
XM_011541226.2:c.629A>C	XP_011539528.1:p.Lys210Thr
XM_011541227.2:c.551A>C	XP_011539529.1:p.Lys184Thr
XM_011541228.2:c.518A>C	XP_011539530.1:p.Lys173Thr
XM_011541231.2:c.113A>C	XP_011539533.1:p.Lys38Thr
XM_024446338.1:c.518A>C	XP_024302106.1:p.Lys173Thr
NM_006623.4:c.407A>C MANE Select	NP_006614.2:p.Lys136Thr