Canonical Allele Identifier: CA341847608

Gene: PHGDH

Linked Data

• gnomAD v4: 1-119726888-A-C
• MyVariant Identifiers: chr1:g.120269511A>C (hg19) ; chr1:g.119726888A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119726888A>C , CM000663.2:g.119726888A>C	GRCh38
NC_000001.10:g.120269511A>C , CM000663.1:g.120269511A>C	GRCh37
NC_000001.9:g.120071034A>C	NCBI36
NG_009188.1:g.20093A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.394A>C	ENSP00000358417.5:p.Lys132Gln
ENST00000462324.2:n.477A>C
ENST00000641023.2:c.394A>C MANE Select	ENSP00000493175.1:p.Lys132Gln
ENST00000641074.1:c.394A>C	ENSP00000493446.1:p.Lys132Gln
ENST00000641115.1:c.394A>C	ENSP00000493264.1:p.Lys132Gln
ENST00000641213.1:c.*47A>C	ENSP00000493079.1:n.*47A>C
ENST00000641247.1:c.*113A>C	ENSP00000492955.1:n.*113A>C
ENST00000641272.1:c.328A>C	ENSP00000493432.1:p.Lys110Gln
ENST00000641314.1:n.379A>C
ENST00000641371.1:c.308A>C	ENSP00000493305.1:p.Gln103Pro
ENST00000641375.1:c.*230A>C	ENSP00000493089.1:n.*230A>C
ENST00000641491.1:c.*47A>C	ENSP00000493187.1:n.*47A>C
ENST00000641513.1:c.*138A>C	ENSP00000493398.1:n.*138A>C
ENST00000641570.1:c.*113A>C	ENSP00000493213.1:n.*113A>C
ENST00000641573.1:n.482A>C
ENST00000641587.1:c.*105A>C	ENSP00000493453.1:n.*105A>C
ENST00000641597.1:c.394A>C	ENSP00000493382.1:p.Lys132Gln
ENST00000641711.1:n.618A>C
ENST00000641756.1:c.*138A>C	ENSP00000493147.1:n.*138A>C
ENST00000641811.1:c.150A>C
ENST00000641847.1:n.253A>C
ENST00000641891.1:c.*220A>C	ENSP00000493288.1:n.*220A>C
ENST00000641927.1:n.334A>C
ENST00000641947.1:c.394A>C	ENSP00000492994.1:p.Lys132Gln
ENST00000642021.1:n.516A>C
ENST00000642041.1:c.*433A>C	ENSP00000493415.1:n.*433A>C
ENST00000369407.3:c.292A>C	ENSP00000358415.3:p.Lys98Gln
ENST00000369409.8:c.394A>C	ENSP00000358417.4:p.Lys132Gln
ENST00000462324.1:n.662A>C
ENST00000493622.5:n.583A>C
NM_006623.3:c.394A>C	NP_006614.2:p.Lys132Gln
XM_011541226.1:c.616A>C	XP_011539528.1:p.Lys206Gln
XM_011541227.1:c.538A>C	XP_011539529.1:p.Lys180Gln
XM_011541228.1:c.505A>C	XP_011539530.1:p.Lys169Gln
XM_011541229.1:c.331A>C	XP_011539531.1:p.Lys111Gln
XM_011541230.1:c.109A>C	XP_011539532.1:p.Lys37Gln
XM_011541231.1:c.100A>C	XP_011539533.1:p.Lys34Gln
XM_011541226.2:c.616A>C	XP_011539528.1:p.Lys206Gln
XM_011541227.2:c.538A>C	XP_011539529.1:p.Lys180Gln
XM_011541228.2:c.505A>C	XP_011539530.1:p.Lys169Gln
XM_011541231.2:c.100A>C	XP_011539533.1:p.Lys34Gln
XM_024446338.1:c.505A>C	XP_024302106.1:p.Lys169Gln
NM_006623.4:c.394A>C MANE Select	NP_006614.2:p.Lys132Gln