Canonical Allele Identifier: CA420017160

Gene: PHGDH

Linked Data

• gnomAD v4: 1-119743920-C-A
• MyVariant Identifiers: chr1:g.120286543C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119743920C>A , CM000663.2:g.119743920C>A	GRCh38
NC_000001.10:g.120286543C>A , CM000663.1:g.120286543C>A	GRCh37
NC_000001.9:g.120088066C>A	NCBI36
NG_009188.1:g.37125C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.1501C>A	ENSP00000358417.5:p.Leu501Ile
ENST00000641023.2:c.1482C>A MANE Select	ENSP00000493175.1:p.Ser494=
ENST00000641074.1:c.*61C>A	ENSP00000493446.1:n.*61C>A
ENST00000641115.1:c.1218C>A	ENSP00000493264.1:p.Ser406=
ENST00000641213.1:c.*1135C>A	ENSP00000493079.1:n.*1135C>A
ENST00000641314.1:n.1467C>A
ENST00000641375.1:c.*1318C>A	ENSP00000493089.1:n.*1318C>A
ENST00000641597.1:c.1482C>A	ENSP00000493382.1:p.Ser494=
ENST00000641756.1:c.*1226C>A	ENSP00000493147.1:n.*1226C>A
ENST00000641811.1:c.736C>A
ENST00000641891.1:c.*1308C>A	ENSP00000493288.1:n.*1308C>A
ENST00000641927.1:n.1422C>A
ENST00000641947.1:c.1461C>A	ENSP00000492994.1:p.Ser487=
ENST00000642021.1:n.2513C>A
ENST00000369407.3:c.1380C>A	ENSP00000358415.3:p.Ser460=
ENST00000369409.8:c.1482C>A	ENSP00000358417.4:p.Ser494=
ENST00000482968.1:n.1461C>A
NM_006623.3:c.1482C>A	NP_006614.2:p.Ser494=
XM_011541226.1:c.1704C>A	XP_011539528.1:p.Ser568=
XM_011541227.1:c.1626C>A	XP_011539529.1:p.Ser542=
XM_011541228.1:c.1593C>A	XP_011539530.1:p.Ser531=
XM_011541229.1:c.1419C>A	XP_011539531.1:p.Ser473=
XM_011541230.1:c.1197C>A	XP_011539532.1:p.Ser399=
XM_011541231.1:c.1188C>A	XP_011539533.1:p.Ser396=
XM_011541226.2:c.1704C>A	XP_011539528.1:p.Ser568=
XM_011541227.2:c.1626C>A	XP_011539529.1:p.Ser542=
XM_011541228.2:c.1593C>A	XP_011539530.1:p.Ser531=
XM_011541231.2:c.1188C>A	XP_011539533.1:p.Ser396=
XM_024446338.1:c.1593C>A	XP_024302106.1:p.Ser531=
NM_006623.4:c.1482C>A MANE Select	NP_006614.2:p.Ser494=