Canonical Allele Identifier: CA420013677

Gene: PHGDH

Linked Data

• MyVariant Identifiers: chr1:g.120279742G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119737119G>C , CM000663.2:g.119737119G>C	GRCh38
NC_000001.10:g.120279742G>C , CM000663.1:g.120279742G>C	GRCh37
NC_000001.9:g.120081265G>C	NCBI36
NG_009188.1:g.30324G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.798G>C	ENSP00000358417.5:p.Pro266=
ENST00000469443.2:n.618G>C
ENST00000641023.2:c.798G>C MANE Select	ENSP00000493175.1:p.Pro266=
ENST00000641074.1:c.798G>C	ENSP00000493446.1:p.Pro266=
ENST00000641115.1:c.798G>C	ENSP00000493264.1:p.Pro266=
ENST00000641213.1:c.*451G>C	ENSP00000493079.1:n.*451G>C
ENST00000641314.1:n.783G>C
ENST00000641375.1:c.*634G>C	ENSP00000493089.1:n.*634G>C
ENST00000641597.1:c.798G>C	ENSP00000493382.1:p.Pro266=
ENST00000641756.1:c.*542G>C	ENSP00000493147.1:n.*542G>C
ENST00000641811.1:c.554G>C
ENST00000641891.1:c.*624G>C	ENSP00000493288.1:n.*624G>C
ENST00000641927.1:n.738G>C
ENST00000641947.1:c.798G>C	ENSP00000492994.1:p.Pro266=
ENST00000642021.1:n.920G>C
ENST00000369407.3:c.696G>C	ENSP00000358415.3:p.Pro232=
ENST00000369409.8:c.798G>C	ENSP00000358417.4:p.Pro266=
NM_006623.3:c.798G>C	NP_006614.2:p.Pro266=
XM_011541226.1:c.1020G>C	XP_011539528.1:p.Pro340=
XM_011541227.1:c.942G>C	XP_011539529.1:p.Pro314=
XM_011541228.1:c.909G>C	XP_011539530.1:p.Pro303=
XM_011541229.1:c.735G>C	XP_011539531.1:p.Pro245=
XM_011541230.1:c.513G>C	XP_011539532.1:p.Pro171=
XM_011541231.1:c.504G>C	XP_011539533.1:p.Pro168=
XM_011541226.2:c.1020G>C	XP_011539528.1:p.Pro340=
XM_011541227.2:c.942G>C	XP_011539529.1:p.Pro314=
XM_011541228.2:c.909G>C	XP_011539530.1:p.Pro303=
XM_011541231.2:c.504G>C	XP_011539533.1:p.Pro168=
XM_024446338.1:c.909G>C	XP_024302106.1:p.Pro303=
NM_006623.4:c.798G>C MANE Select	NP_006614.2:p.Pro266=