Canonical Allele Identifier: CA341851173

Gene: PHGDH

Linked Data

• MyVariant Identifiers: chr1:g.120279781C>G (hg19) ; chr1:g.119737158C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119737158C>G , CM000663.2:g.119737158C>G	GRCh38
NC_000001.10:g.120279781C>G , CM000663.1:g.120279781C>G	GRCh37
NC_000001.9:g.120081304C>G	NCBI36
NG_009188.1:g.30363C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.837C>G	ENSP00000358417.5:p.Ile279Met
ENST00000641023.2:c.837C>G MANE Select	ENSP00000493175.1:p.Ile279Met
ENST00000641074.1:c.837C>G	ENSP00000493446.1:p.Ile279Met
ENST00000641115.1:c.837C>G	ENSP00000493264.1:p.Ile279Met
ENST00000641213.1:c.*490C>G	ENSP00000493079.1:n.*490C>G
ENST00000641314.1:n.822C>G
ENST00000641375.1:c.*673C>G	ENSP00000493089.1:n.*673C>G
ENST00000641597.1:c.837C>G	ENSP00000493382.1:p.Ile279Met
ENST00000641756.1:c.*581C>G	ENSP00000493147.1:n.*581C>G
ENST00000641811.1:c.593C>G
ENST00000641891.1:c.*663C>G	ENSP00000493288.1:n.*663C>G
ENST00000641927.1:n.777C>G
ENST00000641947.1:c.837C>G	ENSP00000492994.1:p.Ile279Met
ENST00000642021.1:n.959C>G
ENST00000369407.3:c.735C>G	ENSP00000358415.3:p.Ile245Met
ENST00000369409.8:c.837C>G	ENSP00000358417.4:p.Ile279Met
NM_006623.3:c.837C>G	NP_006614.2:p.Ile279Met
XM_011541226.1:c.1059C>G	XP_011539528.1:p.Ile353Met
XM_011541227.1:c.981C>G	XP_011539529.1:p.Ile327Met
XM_011541228.1:c.948C>G	XP_011539530.1:p.Ile316Met
XM_011541229.1:c.774C>G	XP_011539531.1:p.Ile258Met
XM_011541230.1:c.552C>G	XP_011539532.1:p.Ile184Met
XM_011541231.1:c.543C>G	XP_011539533.1:p.Ile181Met
XM_011541226.2:c.1059C>G	XP_011539528.1:p.Ile353Met
XM_011541227.2:c.981C>G	XP_011539529.1:p.Ile327Met
XM_011541228.2:c.948C>G	XP_011539530.1:p.Ile316Met
XM_011541231.2:c.543C>G	XP_011539533.1:p.Ile181Met
XM_024446338.1:c.948C>G	XP_024302106.1:p.Ile316Met
NM_006623.4:c.837C>G MANE Select	NP_006614.2:p.Ile279Met