Canonical Allele Identifier: CA341847836

Gene: PHGDH

Linked Data

• MyVariant Identifiers: chr1:g.120269714T>C (hg19) ; chr1:g.119727091T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119727091T>C , CM000663.2:g.119727091T>C	GRCh38
NC_000001.10:g.120269714T>C , CM000663.1:g.120269714T>C	GRCh37
NC_000001.9:g.120071237T>C	NCBI36
NG_009188.1:g.20296T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.499T>C	ENSP00000358417.5:p.Phe167Leu
ENST00000462324.2:n.582T>C
ENST00000641023.2:c.499T>C MANE Select	ENSP00000493175.1:p.Phe167Leu
ENST00000641074.1:c.499T>C	ENSP00000493446.1:p.Phe167Leu
ENST00000641115.1:c.499T>C	ENSP00000493264.1:p.Phe167Leu
ENST00000641213.1:c.*152T>C	ENSP00000493079.1:n.*152T>C
ENST00000641247.1:c.*218T>C	ENSP00000492955.1:n.*218T>C
ENST00000641272.1:c.433T>C	ENSP00000493432.1:p.Phe145Leu
ENST00000641314.1:n.484T>C
ENST00000641371.1:c.413T>C	ENSP00000493305.1:p.Leu138Pro
ENST00000641375.1:c.*335T>C	ENSP00000493089.1:n.*335T>C
ENST00000641455.1:n.44T>C
ENST00000641491.1:c.*152T>C	ENSP00000493187.1:n.*152T>C
ENST00000641570.1:c.*218T>C	ENSP00000493213.1:n.*218T>C
ENST00000641573.1:n.587T>C
ENST00000641587.1:c.*210T>C	ENSP00000493453.1:n.*210T>C
ENST00000641597.1:c.499T>C	ENSP00000493382.1:p.Phe167Leu
ENST00000641756.1:c.*243T>C	ENSP00000493147.1:n.*243T>C
ENST00000641811.1:c.255T>C
ENST00000641847.1:n.358T>C
ENST00000641891.1:c.*325T>C	ENSP00000493288.1:n.*325T>C
ENST00000641927.1:n.439T>C
ENST00000641947.1:c.499T>C	ENSP00000492994.1:p.Phe167Leu
ENST00000642021.1:n.621T>C
ENST00000369407.3:c.397T>C	ENSP00000358415.3:p.Phe133Leu
ENST00000369409.8:c.499T>C	ENSP00000358417.4:p.Phe167Leu
ENST00000462324.1:n.767T>C
ENST00000493622.5:n.688T>C
NM_006623.3:c.499T>C	NP_006614.2:p.Phe167Leu
XM_011541226.1:c.721T>C	XP_011539528.1:p.Phe241Leu
XM_011541227.1:c.643T>C	XP_011539529.1:p.Phe215Leu
XM_011541228.1:c.610T>C	XP_011539530.1:p.Phe204Leu
XM_011541229.1:c.436T>C	XP_011539531.1:p.Phe146Leu
XM_011541230.1:c.214T>C	XP_011539532.1:p.Phe72Leu
XM_011541231.1:c.205T>C	XP_011539533.1:p.Phe69Leu
XM_011541226.2:c.721T>C	XP_011539528.1:p.Phe241Leu
XM_011541227.2:c.643T>C	XP_011539529.1:p.Phe215Leu
XM_011541228.2:c.610T>C	XP_011539530.1:p.Phe204Leu
XM_011541231.2:c.205T>C	XP_011539533.1:p.Phe69Leu
XM_024446338.1:c.610T>C	XP_024302106.1:p.Phe204Leu
NM_006623.4:c.499T>C MANE Select	NP_006614.2:p.Phe167Leu