Canonical Allele Identifier: CA341847579

Gene: PHGDH

Linked Data

• MyVariant Identifiers: chr1:g.120269500T>A (hg19) ; chr1:g.119726877T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119726877T>A , CM000663.2:g.119726877T>A	GRCh38
NC_000001.10:g.120269500T>A , CM000663.1:g.120269500T>A	GRCh37
NC_000001.9:g.120071023T>A	NCBI36
NG_009188.1:g.20082T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.383T>A	ENSP00000358417.5:p.Met128Lys
ENST00000462324.2:n.466T>A
ENST00000641023.2:c.383T>A MANE Select	ENSP00000493175.1:p.Met128Lys
ENST00000641074.1:c.383T>A	ENSP00000493446.1:p.Met128Lys
ENST00000641115.1:c.383T>A	ENSP00000493264.1:p.Met128Lys
ENST00000641213.1:c.*36T>A	ENSP00000493079.1:n.*36T>A
ENST00000641247.1:c.*102T>A	ENSP00000492955.1:n.*102T>A
ENST00000641272.1:c.317T>A	ENSP00000493432.1:p.Met106Lys
ENST00000641314.1:n.368T>A
ENST00000641371.1:c.297T>A	ENSP00000493305.1:p.Asp99Glu
ENST00000641375.1:c.*219T>A	ENSP00000493089.1:n.*219T>A
ENST00000641491.1:c.*36T>A	ENSP00000493187.1:n.*36T>A
ENST00000641513.1:c.*127T>A	ENSP00000493398.1:n.*127T>A
ENST00000641570.1:c.*102T>A	ENSP00000493213.1:n.*102T>A
ENST00000641573.1:n.471T>A
ENST00000641587.1:c.*94T>A	ENSP00000493453.1:n.*94T>A
ENST00000641597.1:c.383T>A	ENSP00000493382.1:p.Met128Lys
ENST00000641711.1:n.607T>A
ENST00000641756.1:c.*127T>A	ENSP00000493147.1:n.*127T>A
ENST00000641811.1:c.139T>A
ENST00000641847.1:n.242T>A
ENST00000641891.1:c.*209T>A	ENSP00000493288.1:n.*209T>A
ENST00000641927.1:n.323T>A
ENST00000641947.1:c.383T>A	ENSP00000492994.1:p.Met128Lys
ENST00000642021.1:n.505T>A
ENST00000642041.1:c.*422T>A	ENSP00000493415.1:n.*422T>A
ENST00000369407.3:c.281T>A	ENSP00000358415.3:p.Met94Lys
ENST00000369409.8:c.383T>A	ENSP00000358417.4:p.Met128Lys
ENST00000462324.1:n.651T>A
ENST00000493622.5:n.572T>A
NM_006623.3:c.383T>A	NP_006614.2:p.Met128Lys
XM_011541226.1:c.605T>A	XP_011539528.1:p.Met202Lys
XM_011541227.1:c.527T>A	XP_011539529.1:p.Met176Lys
XM_011541228.1:c.494T>A	XP_011539530.1:p.Met165Lys
XM_011541229.1:c.320T>A	XP_011539531.1:p.Met107Lys
XM_011541230.1:c.98T>A	XP_011539532.1:p.Met33Lys
XM_011541231.1:c.89T>A	XP_011539533.1:p.Met30Lys
XM_011541226.2:c.605T>A	XP_011539528.1:p.Met202Lys
XM_011541227.2:c.527T>A	XP_011539529.1:p.Met176Lys
XM_011541228.2:c.494T>A	XP_011539530.1:p.Met165Lys
XM_011541231.2:c.89T>A	XP_011539533.1:p.Met30Lys
XM_024446338.1:c.494T>A	XP_024302106.1:p.Met165Lys
NM_006623.4:c.383T>A MANE Select	NP_006614.2:p.Met128Lys