Canonical Allele Identifier: CA341854225

Gene: PHGDH

Linked Data

• MyVariant Identifiers: chr1:g.120286539T>C (hg19) ; chr1:g.119743916T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119743916T>C , CM000663.2:g.119743916T>C	GRCh38
NC_000001.10:g.120286539T>C , CM000663.1:g.120286539T>C	GRCh37
NC_000001.9:g.120088062T>C	NCBI36
NG_009188.1:g.37121T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.1497T>C	ENSP00000358417.5:p.Ala499=
ENST00000641023.2:c.1478T>C MANE Select	ENSP00000493175.1:p.Leu493Pro
ENST00000641074.1:c.*57T>C	ENSP00000493446.1:n.*57T>C
ENST00000641115.1:c.1214T>C	ENSP00000493264.1:p.Leu405Pro
ENST00000641213.1:c.*1131T>C	ENSP00000493079.1:n.*1131T>C
ENST00000641314.1:n.1463T>C
ENST00000641375.1:c.*1314T>C	ENSP00000493089.1:n.*1314T>C
ENST00000641597.1:c.1478T>C	ENSP00000493382.1:p.Leu493Pro
ENST00000641756.1:c.*1222T>C	ENSP00000493147.1:n.*1222T>C
ENST00000641811.1:c.732T>C
ENST00000641891.1:c.*1304T>C	ENSP00000493288.1:n.*1304T>C
ENST00000641927.1:n.1418T>C
ENST00000641947.1:c.1457T>C	ENSP00000492994.1:p.Leu486Pro
ENST00000642021.1:n.2509T>C
ENST00000369407.3:c.1376T>C	ENSP00000358415.3:p.Leu459Pro
ENST00000369409.8:c.1478T>C	ENSP00000358417.4:p.Leu493Pro
ENST00000482968.1:n.1457T>C
NM_006623.3:c.1478T>C	NP_006614.2:p.Leu493Pro
XM_011541226.1:c.1700T>C	XP_011539528.1:p.Leu567Pro
XM_011541227.1:c.1622T>C	XP_011539529.1:p.Leu541Pro
XM_011541228.1:c.1589T>C	XP_011539530.1:p.Leu530Pro
XM_011541229.1:c.1415T>C	XP_011539531.1:p.Leu472Pro
XM_011541230.1:c.1193T>C	XP_011539532.1:p.Leu398Pro
XM_011541231.1:c.1184T>C	XP_011539533.1:p.Leu395Pro
XM_011541226.2:c.1700T>C	XP_011539528.1:p.Leu567Pro
XM_011541227.2:c.1622T>C	XP_011539529.1:p.Leu541Pro
XM_011541228.2:c.1589T>C	XP_011539530.1:p.Leu530Pro
XM_011541231.2:c.1184T>C	XP_011539533.1:p.Leu395Pro
XM_024446338.1:c.1589T>C	XP_024302106.1:p.Leu530Pro
NM_006623.4:c.1478T>C MANE Select	NP_006614.2:p.Leu493Pro