Canonical Allele Identifier: CA341851221

Gene: PHGDH

Linked Data

• MyVariant Identifiers: chr1:g.120279793C>A (hg19) ; chr1:g.119737170C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119737170C>A , CM000663.2:g.119737170C>A	GRCh38
NC_000001.10:g.120279793C>A , CM000663.1:g.120279793C>A	GRCh37
NC_000001.9:g.120081316C>A	NCBI36
NG_009188.1:g.30375C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.849C>A	ENSP00000358417.5:p.His283Gln
ENST00000641023.2:c.849C>A MANE Select	ENSP00000493175.1:p.His283Gln
ENST00000641074.1:c.849C>A	ENSP00000493446.1:p.His283Gln
ENST00000641115.1:c.849C>A	ENSP00000493264.1:p.His283Gln
ENST00000641213.1:c.*502C>A	ENSP00000493079.1:n.*502C>A
ENST00000641314.1:n.834C>A
ENST00000641375.1:c.*685C>A	ENSP00000493089.1:n.*685C>A
ENST00000641597.1:c.849C>A	ENSP00000493382.1:p.His283Gln
ENST00000641756.1:c.*593C>A	ENSP00000493147.1:n.*593C>A
ENST00000641811.1:c.605C>A
ENST00000641891.1:c.*675C>A	ENSP00000493288.1:n.*675C>A
ENST00000641927.1:n.789C>A
ENST00000641947.1:c.849C>A	ENSP00000492994.1:p.His283Gln
ENST00000642021.1:n.971C>A
ENST00000369407.3:c.747C>A	ENSP00000358415.3:p.His249Gln
ENST00000369409.8:c.849C>A	ENSP00000358417.4:p.His283Gln
NM_006623.3:c.849C>A	NP_006614.2:p.His283Gln
XM_011541226.1:c.1071C>A	XP_011539528.1:p.His357Gln
XM_011541227.1:c.993C>A	XP_011539529.1:p.His331Gln
XM_011541228.1:c.960C>A	XP_011539530.1:p.His320Gln
XM_011541229.1:c.786C>A	XP_011539531.1:p.His262Gln
XM_011541230.1:c.564C>A	XP_011539532.1:p.His188Gln
XM_011541231.1:c.555C>A	XP_011539533.1:p.His185Gln
XM_011541226.2:c.1071C>A	XP_011539528.1:p.His357Gln
XM_011541227.2:c.993C>A	XP_011539529.1:p.His331Gln
XM_011541228.2:c.960C>A	XP_011539530.1:p.His320Gln
XM_011541231.2:c.555C>A	XP_011539533.1:p.His185Gln
XM_024446338.1:c.960C>A	XP_024302106.1:p.His320Gln
NM_006623.4:c.849C>A MANE Select	NP_006614.2:p.His283Gln