Canonical Allele Identifier: CA341851093

Gene: PHGDH

Linked Data

• dbSNP Id: rs1315761986
• gnomAD v2: 1-120279747-G-C
• gnomAD v4: 1-119737124-G-C
• MyVariant Identifiers: chr1:g.120279747G>C (hg19) ; chr1:g.119737124G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119737124G>C , CM000663.2:g.119737124G>C	GRCh38
NC_000001.10:g.120279747G>C , CM000663.1:g.120279747G>C	GRCh37
NC_000001.9:g.120081270G>C	NCBI36
NG_009188.1:g.30329G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.803G>C	ENSP00000358417.5:p.Arg268Pro
ENST00000469443.2:n.623G>C
ENST00000641023.2:c.803G>C MANE Select	ENSP00000493175.1:p.Arg268Pro
ENST00000641074.1:c.803G>C	ENSP00000493446.1:p.Arg268Pro
ENST00000641115.1:c.803G>C	ENSP00000493264.1:p.Arg268Pro
ENST00000641213.1:c.*456G>C	ENSP00000493079.1:n.*456G>C
ENST00000641314.1:n.788G>C
ENST00000641375.1:c.*639G>C	ENSP00000493089.1:n.*639G>C
ENST00000641597.1:c.803G>C	ENSP00000493382.1:p.Arg268Pro
ENST00000641756.1:c.*547G>C	ENSP00000493147.1:n.*547G>C
ENST00000641811.1:c.559G>C
ENST00000641891.1:c.*629G>C	ENSP00000493288.1:n.*629G>C
ENST00000641927.1:n.743G>C
ENST00000641947.1:c.803G>C	ENSP00000492994.1:p.Arg268Pro
ENST00000642021.1:n.925G>C
ENST00000369407.3:c.701G>C	ENSP00000358415.3:p.Arg234Pro
ENST00000369409.8:c.803G>C	ENSP00000358417.4:p.Arg268Pro
NM_006623.3:c.803G>C	NP_006614.2:p.Arg268Pro
XM_011541226.1:c.1025G>C	XP_011539528.1:p.Arg342Pro
XM_011541227.1:c.947G>C	XP_011539529.1:p.Arg316Pro
XM_011541228.1:c.914G>C	XP_011539530.1:p.Arg305Pro
XM_011541229.1:c.740G>C	XP_011539531.1:p.Arg247Pro
XM_011541230.1:c.518G>C	XP_011539532.1:p.Arg173Pro
XM_011541231.1:c.509G>C	XP_011539533.1:p.Arg170Pro
XM_011541226.2:c.1025G>C	XP_011539528.1:p.Arg342Pro
XM_011541227.2:c.947G>C	XP_011539529.1:p.Arg316Pro
XM_011541228.2:c.914G>C	XP_011539530.1:p.Arg305Pro
XM_011541231.2:c.509G>C	XP_011539533.1:p.Arg170Pro
XM_024446338.1:c.914G>C	XP_024302106.1:p.Arg305Pro
NM_006623.4:c.803G>C MANE Select	NP_006614.2:p.Arg268Pro