Canonical Allele Identifier: CA341847546

Gene: PHGDH

Linked Data

• MyVariant Identifiers: chr1:g.120269480T>G (hg19) ; chr1:g.119726857T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119726857T>G , CM000663.2:g.119726857T>G	GRCh38
NC_000001.10:g.120269480T>G , CM000663.1:g.120269480T>G	GRCh37
NC_000001.9:g.120071003T>G	NCBI36
NG_009188.1:g.20062T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.363T>G	ENSP00000358417.5:p.Ile121Met
ENST00000462324.2:n.446T>G
ENST00000641023.2:c.363T>G MANE Select	ENSP00000493175.1:p.Ile121Met
ENST00000641074.1:c.363T>G	ENSP00000493446.1:p.Ile121Met
ENST00000641115.1:c.363T>G	ENSP00000493264.1:p.Ile121Met
ENST00000641213.1:c.*16T>G	ENSP00000493079.1:n.*16T>G
ENST00000641247.1:c.*82T>G	ENSP00000492955.1:n.*82T>G
ENST00000641272.1:c.297T>G	ENSP00000493432.1:p.Ile99Met
ENST00000641314.1:n.348T>G
ENST00000641371.1:c.277T>G	ENSP00000493305.1:p.Ser93Ala
ENST00000641375.1:c.*199T>G	ENSP00000493089.1:n.*199T>G
ENST00000641491.1:c.*16T>G	ENSP00000493187.1:n.*16T>G
ENST00000641513.1:c.*107T>G	ENSP00000493398.1:n.*107T>G
ENST00000641570.1:c.*82T>G	ENSP00000493213.1:n.*82T>G
ENST00000641573.1:n.451T>G
ENST00000641587.1:c.*74T>G	ENSP00000493453.1:n.*74T>G
ENST00000641597.1:c.363T>G	ENSP00000493382.1:p.Ile121Met
ENST00000641711.1:n.587T>G
ENST00000641756.1:c.*107T>G	ENSP00000493147.1:n.*107T>G
ENST00000641811.1:c.119T>G
ENST00000641847.1:n.222T>G
ENST00000641891.1:c.*189T>G	ENSP00000493288.1:n.*189T>G
ENST00000641927.1:n.303T>G
ENST00000641947.1:c.363T>G	ENSP00000492994.1:p.Ile121Met
ENST00000642021.1:n.485T>G
ENST00000642041.1:c.*402T>G	ENSP00000493415.1:n.*402T>G
ENST00000369407.3:c.261T>G	ENSP00000358415.3:p.Ile87Met
ENST00000369409.8:c.363T>G	ENSP00000358417.4:p.Ile121Met
ENST00000462324.1:n.631T>G
ENST00000493622.5:n.552T>G
NM_006623.3:c.363T>G	NP_006614.2:p.Ile121Met
XM_011541226.1:c.585T>G	XP_011539528.1:p.Ile195Met
XM_011541227.1:c.507T>G	XP_011539529.1:p.Ile169Met
XM_011541228.1:c.474T>G	XP_011539530.1:p.Ile158Met
XM_011541229.1:c.300T>G	XP_011539531.1:p.Ile100Met
XM_011541230.1:c.78T>G	XP_011539532.1:p.Ile26Met
XM_011541231.1:c.69T>G	XP_011539533.1:p.Ile23Met
XM_011541226.2:c.585T>G	XP_011539528.1:p.Ile195Met
XM_011541227.2:c.507T>G	XP_011539529.1:p.Ile169Met
XM_011541228.2:c.474T>G	XP_011539530.1:p.Ile158Met
XM_011541231.2:c.69T>G	XP_011539533.1:p.Ile23Met
XM_024446338.1:c.474T>G	XP_024302106.1:p.Ile158Met
NM_006623.4:c.363T>G MANE Select	NP_006614.2:p.Ile121Met