Canonical Allele Identifier: CA341851247

Gene: PHGDH

Linked Data

• MyVariant Identifiers: chr1:g.120279803A>C (hg19) ; chr1:g.119737180A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119737180A>C , CM000663.2:g.119737180A>C	GRCh38
NC_000001.10:g.120279803A>C , CM000663.1:g.120279803A>C	GRCh37
NC_000001.9:g.120081326A>C	NCBI36
NG_009188.1:g.30385A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.859A>C	ENSP00000358417.5:p.Ser287Arg
ENST00000641023.2:c.859A>C MANE Select	ENSP00000493175.1:p.Ser287Arg
ENST00000641074.1:c.859A>C	ENSP00000493446.1:p.Ser287Arg
ENST00000641115.1:c.859A>C	ENSP00000493264.1:p.Ser287Arg
ENST00000641213.1:c.*512A>C	ENSP00000493079.1:n.*512A>C
ENST00000641314.1:n.844A>C
ENST00000641375.1:c.*695A>C	ENSP00000493089.1:n.*695A>C
ENST00000641597.1:c.859A>C	ENSP00000493382.1:p.Ser287Arg
ENST00000641756.1:c.*603A>C	ENSP00000493147.1:n.*603A>C
ENST00000641811.1:c.615A>C
ENST00000641891.1:c.*685A>C	ENSP00000493288.1:n.*685A>C
ENST00000641927.1:n.799A>C
ENST00000641947.1:c.859A>C	ENSP00000492994.1:p.Ser287Arg
ENST00000642021.1:n.981A>C
ENST00000369407.3:c.757A>C	ENSP00000358415.3:p.Ser253Arg
ENST00000369409.8:c.859A>C	ENSP00000358417.4:p.Ser287Arg
NM_006623.3:c.859A>C	NP_006614.2:p.Ser287Arg
XM_011541226.1:c.1081A>C	XP_011539528.1:p.Ser361Arg
XM_011541227.1:c.1003A>C	XP_011539529.1:p.Ser335Arg
XM_011541228.1:c.970A>C	XP_011539530.1:p.Ser324Arg
XM_011541229.1:c.796A>C	XP_011539531.1:p.Ser266Arg
XM_011541230.1:c.574A>C	XP_011539532.1:p.Ser192Arg
XM_011541231.1:c.565A>C	XP_011539533.1:p.Ser189Arg
XM_011541226.2:c.1081A>C	XP_011539528.1:p.Ser361Arg
XM_011541227.2:c.1003A>C	XP_011539529.1:p.Ser335Arg
XM_011541228.2:c.970A>C	XP_011539530.1:p.Ser324Arg
XM_011541231.2:c.565A>C	XP_011539533.1:p.Ser189Arg
XM_024446338.1:c.970A>C	XP_024302106.1:p.Ser324Arg
NM_006623.4:c.859A>C MANE Select	NP_006614.2:p.Ser287Arg