Canonical Allele Identifier: CA341847813

Gene: PHGDH

Linked Data

• MyVariant Identifiers: chr1:g.120269705A>C (hg19) ; chr1:g.119727082A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119727082A>C , CM000663.2:g.119727082A>C	GRCh38
NC_000001.10:g.120269705A>C , CM000663.1:g.120269705A>C	GRCh37
NC_000001.9:g.120071228A>C	NCBI36
NG_009188.1:g.20287A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.490A>C	ENSP00000358417.5:p.Met164Leu
ENST00000462324.2:n.573A>C
ENST00000641023.2:c.490A>C MANE Select	ENSP00000493175.1:p.Met164Leu
ENST00000641074.1:c.490A>C	ENSP00000493446.1:p.Met164Leu
ENST00000641115.1:c.490A>C	ENSP00000493264.1:p.Met164Leu
ENST00000641213.1:c.*143A>C	ENSP00000493079.1:n.*143A>C
ENST00000641247.1:c.*209A>C	ENSP00000492955.1:n.*209A>C
ENST00000641272.1:c.424A>C	ENSP00000493432.1:p.Met142Leu
ENST00000641314.1:n.475A>C
ENST00000641371.1:c.404A>C	ENSP00000493305.1:p.Asp135Ala
ENST00000641375.1:c.*326A>C	ENSP00000493089.1:n.*326A>C
ENST00000641455.1:n.35A>C
ENST00000641491.1:c.*143A>C	ENSP00000493187.1:n.*143A>C
ENST00000641570.1:c.*209A>C	ENSP00000493213.1:n.*209A>C
ENST00000641573.1:n.578A>C
ENST00000641587.1:c.*201A>C	ENSP00000493453.1:n.*201A>C
ENST00000641597.1:c.490A>C	ENSP00000493382.1:p.Met164Leu
ENST00000641756.1:c.*234A>C	ENSP00000493147.1:n.*234A>C
ENST00000641811.1:c.246A>C
ENST00000641847.1:n.349A>C
ENST00000641891.1:c.*316A>C	ENSP00000493288.1:n.*316A>C
ENST00000641927.1:n.430A>C
ENST00000641947.1:c.490A>C	ENSP00000492994.1:p.Met164Leu
ENST00000642021.1:n.612A>C
ENST00000369407.3:c.388A>C	ENSP00000358415.3:p.Met130Leu
ENST00000369409.8:c.490A>C	ENSP00000358417.4:p.Met164Leu
ENST00000462324.1:n.758A>C
ENST00000493622.5:n.679A>C
NM_006623.3:c.490A>C	NP_006614.2:p.Met164Leu
XM_011541226.1:c.712A>C	XP_011539528.1:p.Met238Leu
XM_011541227.1:c.634A>C	XP_011539529.1:p.Met212Leu
XM_011541228.1:c.601A>C	XP_011539530.1:p.Met201Leu
XM_011541229.1:c.427A>C	XP_011539531.1:p.Met143Leu
XM_011541230.1:c.205A>C	XP_011539532.1:p.Met69Leu
XM_011541231.1:c.196A>C	XP_011539533.1:p.Met66Leu
XM_011541226.2:c.712A>C	XP_011539528.1:p.Met238Leu
XM_011541227.2:c.634A>C	XP_011539529.1:p.Met212Leu
XM_011541228.2:c.601A>C	XP_011539530.1:p.Met201Leu
XM_011541231.2:c.196A>C	XP_011539533.1:p.Met66Leu
XM_024446338.1:c.601A>C	XP_024302106.1:p.Met201Leu
NM_006623.4:c.490A>C MANE Select	NP_006614.2:p.Met164Leu