Canonical Allele Identifier: CA341851217

Gene: PHGDH

Linked Data

• gnomAD v4: 1-119737169-A-G
• MyVariant Identifiers: chr1:g.120279792A>G (hg19) ; chr1:g.119737169A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119737169A>G , CM000663.2:g.119737169A>G	GRCh38
NC_000001.10:g.120279792A>G , CM000663.1:g.120279792A>G	GRCh37
NC_000001.9:g.120081315A>G	NCBI36
NG_009188.1:g.30374A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.848A>G	ENSP00000358417.5:p.His283Arg
ENST00000641023.2:c.848A>G MANE Select	ENSP00000493175.1:p.His283Arg
ENST00000641074.1:c.848A>G	ENSP00000493446.1:p.His283Arg
ENST00000641115.1:c.848A>G	ENSP00000493264.1:p.His283Arg
ENST00000641213.1:c.*501A>G	ENSP00000493079.1:n.*501A>G
ENST00000641314.1:n.833A>G
ENST00000641375.1:c.*684A>G	ENSP00000493089.1:n.*684A>G
ENST00000641597.1:c.848A>G	ENSP00000493382.1:p.His283Arg
ENST00000641756.1:c.*592A>G	ENSP00000493147.1:n.*592A>G
ENST00000641811.1:c.604A>G
ENST00000641891.1:c.*674A>G	ENSP00000493288.1:n.*674A>G
ENST00000641927.1:n.788A>G
ENST00000641947.1:c.848A>G	ENSP00000492994.1:p.His283Arg
ENST00000642021.1:n.970A>G
ENST00000369407.3:c.746A>G	ENSP00000358415.3:p.His249Arg
ENST00000369409.8:c.848A>G	ENSP00000358417.4:p.His283Arg
NM_006623.3:c.848A>G	NP_006614.2:p.His283Arg
XM_011541226.1:c.1070A>G	XP_011539528.1:p.His357Arg
XM_011541227.1:c.992A>G	XP_011539529.1:p.His331Arg
XM_011541228.1:c.959A>G	XP_011539530.1:p.His320Arg
XM_011541229.1:c.785A>G	XP_011539531.1:p.His262Arg
XM_011541230.1:c.563A>G	XP_011539532.1:p.His188Arg
XM_011541231.1:c.554A>G	XP_011539533.1:p.His185Arg
XM_011541226.2:c.1070A>G	XP_011539528.1:p.His357Arg
XM_011541227.2:c.992A>G	XP_011539529.1:p.His331Arg
XM_011541228.2:c.959A>G	XP_011539530.1:p.His320Arg
XM_011541231.2:c.554A>G	XP_011539533.1:p.His185Arg
XM_024446338.1:c.959A>G	XP_024302106.1:p.His320Arg
NM_006623.4:c.848A>G MANE Select	NP_006614.2:p.His283Arg