Canonical Allele Identifier: CA341851124

Gene: PHGDH

Linked Data

• MyVariant Identifiers: chr1:g.120279762T>G (hg19) ; chr1:g.119737139T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119737139T>G , CM000663.2:g.119737139T>G	GRCh38
NC_000001.10:g.120279762T>G , CM000663.1:g.120279762T>G	GRCh37
NC_000001.9:g.120081285T>G	NCBI36
NG_009188.1:g.30344T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.818T>G	ENSP00000358417.5:p.Val273Gly
ENST00000469443.2:n.638T>G
ENST00000641023.2:c.818T>G MANE Select	ENSP00000493175.1:p.Val273Gly
ENST00000641074.1:c.818T>G	ENSP00000493446.1:p.Val273Gly
ENST00000641115.1:c.818T>G	ENSP00000493264.1:p.Val273Gly
ENST00000641213.1:c.*471T>G	ENSP00000493079.1:n.*471T>G
ENST00000641314.1:n.803T>G
ENST00000641375.1:c.*654T>G	ENSP00000493089.1:n.*654T>G
ENST00000641597.1:c.818T>G	ENSP00000493382.1:p.Val273Gly
ENST00000641756.1:c.*562T>G	ENSP00000493147.1:n.*562T>G
ENST00000641811.1:c.574T>G
ENST00000641891.1:c.*644T>G	ENSP00000493288.1:n.*644T>G
ENST00000641927.1:n.758T>G
ENST00000641947.1:c.818T>G	ENSP00000492994.1:p.Val273Gly
ENST00000642021.1:n.940T>G
ENST00000369407.3:c.716T>G	ENSP00000358415.3:p.Val239Gly
ENST00000369409.8:c.818T>G	ENSP00000358417.4:p.Val273Gly
NM_006623.3:c.818T>G	NP_006614.2:p.Val273Gly
XM_011541226.1:c.1040T>G	XP_011539528.1:p.Val347Gly
XM_011541227.1:c.962T>G	XP_011539529.1:p.Val321Gly
XM_011541228.1:c.929T>G	XP_011539530.1:p.Val310Gly
XM_011541229.1:c.755T>G	XP_011539531.1:p.Val252Gly
XM_011541230.1:c.533T>G	XP_011539532.1:p.Val178Gly
XM_011541231.1:c.524T>G	XP_011539533.1:p.Val175Gly
XM_011541226.2:c.1040T>G	XP_011539528.1:p.Val347Gly
XM_011541227.2:c.962T>G	XP_011539529.1:p.Val321Gly
XM_011541228.2:c.929T>G	XP_011539530.1:p.Val310Gly
XM_011541231.2:c.524T>G	XP_011539533.1:p.Val175Gly
XM_024446338.1:c.929T>G	XP_024302106.1:p.Val310Gly
NM_006623.4:c.818T>G MANE Select	NP_006614.2:p.Val273Gly