Canonical Allele Identifier: CA420017138

Gene: PHGDH

Linked Data

• MyVariant Identifiers: chr1:g.120286537G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119743914G>C , CM000663.2:g.119743914G>C	GRCh38
NC_000001.10:g.120286537G>C , CM000663.1:g.120286537G>C	GRCh37
NC_000001.9:g.120088060G>C	NCBI36
NG_009188.1:g.37119G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.1495G>C	ENSP00000358417.5:p.Ala499Pro
ENST00000641023.2:c.1476G>C MANE Select	ENSP00000493175.1:p.Leu492=
ENST00000641074.1:c.*55G>C	ENSP00000493446.1:n.*55G>C
ENST00000641115.1:c.1212G>C	ENSP00000493264.1:p.Leu404=
ENST00000641213.1:c.*1129G>C	ENSP00000493079.1:n.*1129G>C
ENST00000641314.1:n.1461G>C
ENST00000641375.1:c.*1312G>C	ENSP00000493089.1:n.*1312G>C
ENST00000641597.1:c.1476G>C	ENSP00000493382.1:p.Leu492=
ENST00000641756.1:c.*1220G>C	ENSP00000493147.1:n.*1220G>C
ENST00000641811.1:c.730G>C
ENST00000641891.1:c.*1302G>C	ENSP00000493288.1:n.*1302G>C
ENST00000641927.1:n.1416G>C
ENST00000641947.1:c.1455G>C	ENSP00000492994.1:p.Leu485=
ENST00000642021.1:n.2507G>C
ENST00000369407.3:c.1374G>C	ENSP00000358415.3:p.Leu458=
ENST00000369409.8:c.1476G>C	ENSP00000358417.4:p.Leu492=
ENST00000482968.1:n.1455G>C
NM_006623.3:c.1476G>C	NP_006614.2:p.Leu492=
XM_011541226.1:c.1698G>C	XP_011539528.1:p.Leu566=
XM_011541227.1:c.1620G>C	XP_011539529.1:p.Leu540=
XM_011541228.1:c.1587G>C	XP_011539530.1:p.Leu529=
XM_011541229.1:c.1413G>C	XP_011539531.1:p.Leu471=
XM_011541230.1:c.1191G>C	XP_011539532.1:p.Leu397=
XM_011541231.1:c.1182G>C	XP_011539533.1:p.Leu394=
XM_011541226.2:c.1698G>C	XP_011539528.1:p.Leu566=
XM_011541227.2:c.1620G>C	XP_011539529.1:p.Leu540=
XM_011541228.2:c.1587G>C	XP_011539530.1:p.Leu529=
XM_011541231.2:c.1182G>C	XP_011539533.1:p.Leu394=
XM_024446338.1:c.1587G>C	XP_024302106.1:p.Leu529=
NM_006623.4:c.1476G>C MANE Select	NP_006614.2:p.Leu492=