Canonical Allele Identifier: CA341847678

Gene: PHGDH

Linked Data

• MyVariant Identifiers: chr1:g.120269636A>C (hg19) ; chr1:g.119727013A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119727013A>C , CM000663.2:g.119727013A>C	GRCh38
NC_000001.10:g.120269636A>C , CM000663.1:g.120269636A>C	GRCh37
NC_000001.9:g.120071159A>C	NCBI36
NG_009188.1:g.20218A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.421A>C	ENSP00000358417.5:p.Thr141Pro
ENST00000462324.2:n.504A>C
ENST00000641023.2:c.421A>C MANE Select	ENSP00000493175.1:p.Thr141Pro
ENST00000641074.1:c.421A>C	ENSP00000493446.1:p.Thr141Pro
ENST00000641115.1:c.421A>C	ENSP00000493264.1:p.Thr141Pro
ENST00000641213.1:c.*74A>C	ENSP00000493079.1:n.*74A>C
ENST00000641247.1:c.*140A>C	ENSP00000492955.1:n.*140A>C
ENST00000641272.1:c.355A>C	ENSP00000493432.1:p.Thr119Pro
ENST00000641314.1:n.406A>C
ENST00000641371.1:c.335A>C	ENSP00000493305.1:p.Asn112Thr
ENST00000641375.1:c.*257A>C	ENSP00000493089.1:n.*257A>C
ENST00000641491.1:c.*74A>C	ENSP00000493187.1:n.*74A>C
ENST00000641570.1:c.*140A>C	ENSP00000493213.1:n.*140A>C
ENST00000641573.1:n.509A>C
ENST00000641587.1:c.*132A>C	ENSP00000493453.1:n.*132A>C
ENST00000641597.1:c.421A>C	ENSP00000493382.1:p.Thr141Pro
ENST00000641711.1:n.645A>C
ENST00000641756.1:c.*165A>C	ENSP00000493147.1:n.*165A>C
ENST00000641811.1:c.177A>C
ENST00000641847.1:n.280A>C
ENST00000641891.1:c.*247A>C	ENSP00000493288.1:n.*247A>C
ENST00000641927.1:n.361A>C
ENST00000641947.1:c.421A>C	ENSP00000492994.1:p.Thr141Pro
ENST00000642021.1:n.543A>C
ENST00000642041.1:c.*460A>C	ENSP00000493415.1:n.*460A>C
ENST00000369407.3:c.319A>C	ENSP00000358415.3:p.Thr107Pro
ENST00000369409.8:c.421A>C	ENSP00000358417.4:p.Thr141Pro
ENST00000462324.1:n.689A>C
ENST00000493622.5:n.610A>C
NM_006623.3:c.421A>C	NP_006614.2:p.Thr141Pro
XM_011541226.1:c.643A>C	XP_011539528.1:p.Thr215Pro
XM_011541227.1:c.565A>C	XP_011539529.1:p.Thr189Pro
XM_011541228.1:c.532A>C	XP_011539530.1:p.Thr178Pro
XM_011541229.1:c.358A>C	XP_011539531.1:p.Thr120Pro
XM_011541230.1:c.136A>C	XP_011539532.1:p.Thr46Pro
XM_011541231.1:c.127A>C	XP_011539533.1:p.Thr43Pro
XM_011541226.2:c.643A>C	XP_011539528.1:p.Thr215Pro
XM_011541227.2:c.565A>C	XP_011539529.1:p.Thr189Pro
XM_011541228.2:c.532A>C	XP_011539530.1:p.Thr178Pro
XM_011541231.2:c.127A>C	XP_011539533.1:p.Thr43Pro
XM_024446338.1:c.532A>C	XP_024302106.1:p.Thr178Pro
NM_006623.4:c.421A>C MANE Select	NP_006614.2:p.Thr141Pro