Canonical Allele Identifier: CA341851133

Gene: PHGDH

Linked Data

• MyVariant Identifiers: chr1:g.120279767C>G (hg19) ; chr1:g.119737144C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119737144C>G , CM000663.2:g.119737144C>G	GRCh38
NC_000001.10:g.120279767C>G , CM000663.1:g.120279767C>G	GRCh37
NC_000001.9:g.120081290C>G	NCBI36
NG_009188.1:g.30349C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.823C>G	ENSP00000358417.5:p.His275Asp
ENST00000469443.2:n.643C>G
ENST00000641023.2:c.823C>G MANE Select	ENSP00000493175.1:p.His275Asp
ENST00000641074.1:c.823C>G	ENSP00000493446.1:p.His275Asp
ENST00000641115.1:c.823C>G	ENSP00000493264.1:p.His275Asp
ENST00000641213.1:c.*476C>G	ENSP00000493079.1:n.*476C>G
ENST00000641314.1:n.808C>G
ENST00000641375.1:c.*659C>G	ENSP00000493089.1:n.*659C>G
ENST00000641597.1:c.823C>G	ENSP00000493382.1:p.His275Asp
ENST00000641756.1:c.*567C>G	ENSP00000493147.1:n.*567C>G
ENST00000641811.1:c.579C>G
ENST00000641891.1:c.*649C>G	ENSP00000493288.1:n.*649C>G
ENST00000641927.1:n.763C>G
ENST00000641947.1:c.823C>G	ENSP00000492994.1:p.His275Asp
ENST00000642021.1:n.945C>G
ENST00000369407.3:c.721C>G	ENSP00000358415.3:p.His241Asp
ENST00000369409.8:c.823C>G	ENSP00000358417.4:p.His275Asp
NM_006623.3:c.823C>G	NP_006614.2:p.His275Asp
XM_011541226.1:c.1045C>G	XP_011539528.1:p.His349Asp
XM_011541227.1:c.967C>G	XP_011539529.1:p.His323Asp
XM_011541228.1:c.934C>G	XP_011539530.1:p.His312Asp
XM_011541229.1:c.760C>G	XP_011539531.1:p.His254Asp
XM_011541230.1:c.538C>G	XP_011539532.1:p.His180Asp
XM_011541231.1:c.529C>G	XP_011539533.1:p.His177Asp
XM_011541226.2:c.1045C>G	XP_011539528.1:p.His349Asp
XM_011541227.2:c.967C>G	XP_011539529.1:p.His323Asp
XM_011541228.2:c.934C>G	XP_011539530.1:p.His312Asp
XM_011541231.2:c.529C>G	XP_011539533.1:p.His177Asp
XM_024446338.1:c.934C>G	XP_024302106.1:p.His312Asp
NM_006623.4:c.823C>G MANE Select	NP_006614.2:p.His275Asp