Canonical Allele Identifier: CA341851138

Gene: PHGDH

Linked Data

• gnomAD v4: 1-119737146-T-G
• MyVariant Identifiers: chr1:g.120279769T>G (hg19) ; chr1:g.119737146T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119737146T>G , CM000663.2:g.119737146T>G	GRCh38
NC_000001.10:g.120279769T>G , CM000663.1:g.120279769T>G	GRCh37
NC_000001.9:g.120081292T>G	NCBI36
NG_009188.1:g.30351T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.825T>G	ENSP00000358417.5:p.His275Gln
ENST00000469443.2:n.645T>G
ENST00000641023.2:c.825T>G MANE Select	ENSP00000493175.1:p.His275Gln
ENST00000641074.1:c.825T>G	ENSP00000493446.1:p.His275Gln
ENST00000641115.1:c.825T>G	ENSP00000493264.1:p.His275Gln
ENST00000641213.1:c.*478T>G	ENSP00000493079.1:n.*478T>G
ENST00000641314.1:n.810T>G
ENST00000641375.1:c.*661T>G	ENSP00000493089.1:n.*661T>G
ENST00000641597.1:c.825T>G	ENSP00000493382.1:p.His275Gln
ENST00000641756.1:c.*569T>G	ENSP00000493147.1:n.*569T>G
ENST00000641811.1:c.581T>G
ENST00000641891.1:c.*651T>G	ENSP00000493288.1:n.*651T>G
ENST00000641927.1:n.765T>G
ENST00000641947.1:c.825T>G	ENSP00000492994.1:p.His275Gln
ENST00000642021.1:n.947T>G
ENST00000369407.3:c.723T>G	ENSP00000358415.3:p.His241Gln
ENST00000369409.8:c.825T>G	ENSP00000358417.4:p.His275Gln
NM_006623.3:c.825T>G	NP_006614.2:p.His275Gln
XM_011541226.1:c.1047T>G	XP_011539528.1:p.His349Gln
XM_011541227.1:c.969T>G	XP_011539529.1:p.His323Gln
XM_011541228.1:c.936T>G	XP_011539530.1:p.His312Gln
XM_011541229.1:c.762T>G	XP_011539531.1:p.His254Gln
XM_011541230.1:c.540T>G	XP_011539532.1:p.His180Gln
XM_011541231.1:c.531T>G	XP_011539533.1:p.His177Gln
XM_011541226.2:c.1047T>G	XP_011539528.1:p.His349Gln
XM_011541227.2:c.969T>G	XP_011539529.1:p.His323Gln
XM_011541228.2:c.936T>G	XP_011539530.1:p.His312Gln
XM_011541231.2:c.531T>G	XP_011539533.1:p.His177Gln
XM_024446338.1:c.936T>G	XP_024302106.1:p.His312Gln
NM_006623.4:c.825T>G MANE Select	NP_006614.2:p.His275Gln