Canonical Allele Identifier: CA341851178

Gene: PHGDH

Linked Data

• gnomAD v4: 1-119737159-A-C
• MyVariant Identifiers: chr1:g.120279782A>C (hg19) ; chr1:g.119737159A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119737159A>C , CM000663.2:g.119737159A>C	GRCh38
NC_000001.10:g.120279782A>C , CM000663.1:g.120279782A>C	GRCh37
NC_000001.9:g.120081305A>C	NCBI36
NG_009188.1:g.30364A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.838A>C	ENSP00000358417.5:p.Ser280Arg
ENST00000641023.2:c.838A>C MANE Select	ENSP00000493175.1:p.Ser280Arg
ENST00000641074.1:c.838A>C	ENSP00000493446.1:p.Ser280Arg
ENST00000641115.1:c.838A>C	ENSP00000493264.1:p.Ser280Arg
ENST00000641213.1:c.*491A>C	ENSP00000493079.1:n.*491A>C
ENST00000641314.1:n.823A>C
ENST00000641375.1:c.*674A>C	ENSP00000493089.1:n.*674A>C
ENST00000641597.1:c.838A>C	ENSP00000493382.1:p.Ser280Arg
ENST00000641756.1:c.*582A>C	ENSP00000493147.1:n.*582A>C
ENST00000641811.1:c.594A>C
ENST00000641891.1:c.*664A>C	ENSP00000493288.1:n.*664A>C
ENST00000641927.1:n.778A>C
ENST00000641947.1:c.838A>C	ENSP00000492994.1:p.Ser280Arg
ENST00000642021.1:n.960A>C
ENST00000369407.3:c.736A>C	ENSP00000358415.3:p.Ser246Arg
ENST00000369409.8:c.838A>C	ENSP00000358417.4:p.Ser280Arg
NM_006623.3:c.838A>C	NP_006614.2:p.Ser280Arg
XM_011541226.1:c.1060A>C	XP_011539528.1:p.Ser354Arg
XM_011541227.1:c.982A>C	XP_011539529.1:p.Ser328Arg
XM_011541228.1:c.949A>C	XP_011539530.1:p.Ser317Arg
XM_011541229.1:c.775A>C	XP_011539531.1:p.Ser259Arg
XM_011541230.1:c.553A>C	XP_011539532.1:p.Ser185Arg
XM_011541231.1:c.544A>C	XP_011539533.1:p.Ser182Arg
XM_011541226.2:c.1060A>C	XP_011539528.1:p.Ser354Arg
XM_011541227.2:c.982A>C	XP_011539529.1:p.Ser328Arg
XM_011541228.2:c.949A>C	XP_011539530.1:p.Ser317Arg
XM_011541231.2:c.544A>C	XP_011539533.1:p.Ser182Arg
XM_024446338.1:c.949A>C	XP_024302106.1:p.Ser317Arg
NM_006623.4:c.838A>C MANE Select	NP_006614.2:p.Ser280Arg