Canonical Allele Identifier: CA1037073

Gene: PHGDH

Linked Data

• dbSNP Id: rs747903761
• ExAC: 1:120269512 A / T
• gnomAD v2: 1-120269512-A-T
• gnomAD v4: 1-119726889-A-T
• MyVariant Identifiers: chr1:g.120269512A>T (hg19) ; chr1:g.119726889A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119726889A>T , CM000663.2:g.119726889A>T	GRCh38
NC_000001.10:g.120269512A>T , CM000663.1:g.120269512A>T	GRCh37
NC_000001.9:g.120071035A>T	NCBI36
NG_009188.1:g.20094A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.395A>T	ENSP00000358417.5:p.Lys132Ile
ENST00000462324.2:n.478A>T
ENST00000641023.2:c.395A>T MANE Select	ENSP00000493175.1:p.Lys132Ile
ENST00000641074.1:c.395A>T	ENSP00000493446.1:p.Lys132Ile
ENST00000641115.1:c.395A>T	ENSP00000493264.1:p.Lys132Ile
ENST00000641213.1:c.*48A>T	ENSP00000493079.1:n.*48A>T
ENST00000641247.1:c.*114A>T	ENSP00000492955.1:n.*114A>T
ENST00000641272.1:c.329A>T	ENSP00000493432.1:p.Lys110Ile
ENST00000641314.1:n.380A>T
ENST00000641371.1:c.309A>T	ENSP00000493305.1:p.Gln103His
ENST00000641375.1:c.*231A>T	ENSP00000493089.1:n.*231A>T
ENST00000641491.1:c.*48A>T	ENSP00000493187.1:n.*48A>T
ENST00000641513.1:c.*139A>T	ENSP00000493398.1:n.*139A>T
ENST00000641570.1:c.*114A>T	ENSP00000493213.1:n.*114A>T
ENST00000641573.1:n.483A>T
ENST00000641587.1:c.*106A>T	ENSP00000493453.1:n.*106A>T
ENST00000641597.1:c.395A>T	ENSP00000493382.1:p.Lys132Ile
ENST00000641711.1:n.619A>T
ENST00000641756.1:c.*139A>T	ENSP00000493147.1:n.*139A>T
ENST00000641811.1:c.151A>T
ENST00000641847.1:n.254A>T
ENST00000641891.1:c.*221A>T	ENSP00000493288.1:n.*221A>T
ENST00000641927.1:n.335A>T
ENST00000641947.1:c.395A>T	ENSP00000492994.1:p.Lys132Ile
ENST00000642021.1:n.517A>T
ENST00000642041.1:c.*434A>T	ENSP00000493415.1:n.*434A>T
ENST00000369407.3:c.293A>T	ENSP00000358415.3:p.Lys98Ile
ENST00000369409.8:c.395A>T	ENSP00000358417.4:p.Lys132Ile
ENST00000462324.1:n.663A>T
ENST00000493622.5:n.584A>T
NM_006623.3:c.395A>T	NP_006614.2:p.Lys132Ile
XM_011541226.1:c.617A>T	XP_011539528.1:p.Lys206Ile
XM_011541227.1:c.539A>T	XP_011539529.1:p.Lys180Ile
XM_011541228.1:c.506A>T	XP_011539530.1:p.Lys169Ile
XM_011541229.1:c.332A>T	XP_011539531.1:p.Lys111Ile
XM_011541230.1:c.110A>T	XP_011539532.1:p.Lys37Ile
XM_011541231.1:c.101A>T	XP_011539533.1:p.Lys34Ile
XM_011541226.2:c.617A>T	XP_011539528.1:p.Lys206Ile
XM_011541227.2:c.539A>T	XP_011539529.1:p.Lys180Ile
XM_011541228.2:c.506A>T	XP_011539530.1:p.Lys169Ile
XM_011541231.2:c.101A>T	XP_011539533.1:p.Lys34Ile
XM_024446338.1:c.506A>T	XP_024302106.1:p.Lys169Ile
NM_006623.4:c.395A>T MANE Select	NP_006614.2:p.Lys132Ile