Canonical Allele Identifier: CA341847596

Gene: PHGDH

Linked Data

• MyVariant Identifiers: chr1:g.120269506A>C (hg19) ; chr1:g.119726883A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119726883A>C , CM000663.2:g.119726883A>C	GRCh38
NC_000001.10:g.120269506A>C , CM000663.1:g.120269506A>C	GRCh37
NC_000001.9:g.120071029A>C	NCBI36
NG_009188.1:g.20088A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.389A>C	ENSP00000358417.5:p.Asp130Ala
ENST00000462324.2:n.472A>C
ENST00000641023.2:c.389A>C MANE Select	ENSP00000493175.1:p.Asp130Ala
ENST00000641074.1:c.389A>C	ENSP00000493446.1:p.Asp130Ala
ENST00000641115.1:c.389A>C	ENSP00000493264.1:p.Asp130Ala
ENST00000641213.1:c.*42A>C	ENSP00000493079.1:n.*42A>C
ENST00000641247.1:c.*108A>C	ENSP00000492955.1:n.*108A>C
ENST00000641272.1:c.323A>C	ENSP00000493432.1:p.Asp108Ala
ENST00000641314.1:n.374A>C
ENST00000641371.1:c.303A>C	ENSP00000493305.1:p.Gly101=
ENST00000641375.1:c.*225A>C	ENSP00000493089.1:n.*225A>C
ENST00000641491.1:c.*42A>C	ENSP00000493187.1:n.*42A>C
ENST00000641513.1:c.*133A>C	ENSP00000493398.1:n.*133A>C
ENST00000641570.1:c.*108A>C	ENSP00000493213.1:n.*108A>C
ENST00000641573.1:n.477A>C
ENST00000641587.1:c.*100A>C	ENSP00000493453.1:n.*100A>C
ENST00000641597.1:c.389A>C	ENSP00000493382.1:p.Asp130Ala
ENST00000641711.1:n.613A>C
ENST00000641756.1:c.*133A>C	ENSP00000493147.1:n.*133A>C
ENST00000641811.1:c.145A>C
ENST00000641847.1:n.248A>C
ENST00000641891.1:c.*215A>C	ENSP00000493288.1:n.*215A>C
ENST00000641927.1:n.329A>C
ENST00000641947.1:c.389A>C	ENSP00000492994.1:p.Asp130Ala
ENST00000642021.1:n.511A>C
ENST00000642041.1:c.*428A>C	ENSP00000493415.1:n.*428A>C
ENST00000369407.3:c.287A>C	ENSP00000358415.3:p.Asp96Ala
ENST00000369409.8:c.389A>C	ENSP00000358417.4:p.Asp130Ala
ENST00000462324.1:n.657A>C
ENST00000493622.5:n.578A>C
NM_006623.3:c.389A>C	NP_006614.2:p.Asp130Ala
XM_011541226.1:c.611A>C	XP_011539528.1:p.Asp204Ala
XM_011541227.1:c.533A>C	XP_011539529.1:p.Asp178Ala
XM_011541228.1:c.500A>C	XP_011539530.1:p.Asp167Ala
XM_011541229.1:c.326A>C	XP_011539531.1:p.Asp109Ala
XM_011541230.1:c.104A>C	XP_011539532.1:p.Asp35Ala
XM_011541231.1:c.95A>C	XP_011539533.1:p.Asp32Ala
XM_011541226.2:c.611A>C	XP_011539528.1:p.Asp204Ala
XM_011541227.2:c.533A>C	XP_011539529.1:p.Asp178Ala
XM_011541228.2:c.500A>C	XP_011539530.1:p.Asp167Ala
XM_011541231.2:c.95A>C	XP_011539533.1:p.Asp32Ala
XM_024446338.1:c.500A>C	XP_024302106.1:p.Asp167Ala
NM_006623.4:c.389A>C MANE Select	NP_006614.2:p.Asp130Ala