Canonical Allele Identifier: CA341851123

Gene: PHGDH

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.818T>C	ENSP00000358417.5:p.Val273Ala
ENST00000469443.2:n.638T>C
ENST00000641023.2:c.818T>C MANE Select	ENSP00000493175.1:p.Val273Ala
ENST00000641074.1:c.818T>C	ENSP00000493446.1:p.Val273Ala
ENST00000641115.1:c.818T>C	ENSP00000493264.1:p.Val273Ala
ENST00000641213.1:c.*471T>C	ENSP00000493079.1:n.*471T>C
ENST00000641314.1:n.803T>C
ENST00000641375.1:c.*654T>C	ENSP00000493089.1:n.*654T>C
ENST00000641597.1:c.818T>C	ENSP00000493382.1:p.Val273Ala
ENST00000641756.1:c.*562T>C	ENSP00000493147.1:n.*562T>C
ENST00000641811.1:c.574T>C
ENST00000641891.1:c.*644T>C	ENSP00000493288.1:n.*644T>C
ENST00000641927.1:n.758T>C
ENST00000641947.1:c.818T>C	ENSP00000492994.1:p.Val273Ala
ENST00000642021.1:n.940T>C
ENST00000369407.3:c.716T>C	ENSP00000358415.3:p.Val239Ala
ENST00000369409.8:c.818T>C	ENSP00000358417.4:p.Val273Ala
NM_006623.3:c.818T>C	NP_006614.2:p.Val273Ala
XM_011541226.1:c.1040T>C	XP_011539528.1:p.Val347Ala
XM_011541227.1:c.962T>C	XP_011539529.1:p.Val321Ala
XM_011541228.1:c.929T>C	XP_011539530.1:p.Val310Ala
XM_011541229.1:c.755T>C	XP_011539531.1:p.Val252Ala
XM_011541230.1:c.533T>C	XP_011539532.1:p.Val178Ala
XM_011541231.1:c.524T>C	XP_011539533.1:p.Val175Ala
XM_011541226.2:c.1040T>C	XP_011539528.1:p.Val347Ala
XM_011541227.2:c.962T>C	XP_011539529.1:p.Val321Ala
XM_011541228.2:c.929T>C	XP_011539530.1:p.Val310Ala
XM_011541231.2:c.524T>C	XP_011539533.1:p.Val175Ala
XM_024446338.1:c.929T>C	XP_024302106.1:p.Val310Ala
NM_006623.4:c.818T>C MANE Select	NP_006614.2:p.Val273Ala