Canonical Allele Identifier: CA341847719

Gene: PHGDH

Linked Data

• ClinVar Variation Id: 591900
• ClinVar RCV Id: RCV000723083
• dbSNP Id: rs1361480087
• MyVariant Identifiers: chr1:g.120269654A>C (hg19) ; chr1:g.119727031A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119727031A>C , CM000663.2:g.119727031A>C	GRCh38
NC_000001.10:g.120269654A>C , CM000663.1:g.120269654A>C	GRCh37
NC_000001.9:g.120071177A>C	NCBI36
NG_009188.1:g.20236A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.439A>C	ENSP00000358417.5:p.Thr147Pro
ENST00000462324.2:n.522A>C
ENST00000641023.2:c.439A>C MANE Select	ENSP00000493175.1:p.Thr147Pro
ENST00000641074.1:c.439A>C	ENSP00000493446.1:p.Thr147Pro
ENST00000641115.1:c.439A>C	ENSP00000493264.1:p.Thr147Pro
ENST00000641213.1:c.*92A>C	ENSP00000493079.1:n.*92A>C
ENST00000641247.1:c.*158A>C	ENSP00000492955.1:n.*158A>C
ENST00000641272.1:c.373A>C	ENSP00000493432.1:p.Thr125Pro
ENST00000641314.1:n.424A>C
ENST00000641371.1:c.353A>C	ENSP00000493305.1:p.Asp118Ala
ENST00000641375.1:c.*275A>C	ENSP00000493089.1:n.*275A>C
ENST00000641491.1:c.*92A>C	ENSP00000493187.1:n.*92A>C
ENST00000641570.1:c.*158A>C	ENSP00000493213.1:n.*158A>C
ENST00000641573.1:n.527A>C
ENST00000641587.1:c.*150A>C	ENSP00000493453.1:n.*150A>C
ENST00000641597.1:c.439A>C	ENSP00000493382.1:p.Thr147Pro
ENST00000641711.1:n.663A>C
ENST00000641756.1:c.*183A>C	ENSP00000493147.1:n.*183A>C
ENST00000641811.1:c.195A>C
ENST00000641847.1:n.298A>C
ENST00000641891.1:c.*265A>C	ENSP00000493288.1:n.*265A>C
ENST00000641927.1:n.379A>C
ENST00000641947.1:c.439A>C	ENSP00000492994.1:p.Thr147Pro
ENST00000642021.1:n.561A>C
ENST00000642041.1:c.*478A>C	ENSP00000493415.1:n.*478A>C
ENST00000369407.3:c.337A>C	ENSP00000358415.3:p.Thr113Pro
ENST00000369409.8:c.439A>C	ENSP00000358417.4:p.Thr147Pro
ENST00000462324.1:n.707A>C
ENST00000493622.5:n.628A>C
NM_006623.3:c.439A>C	NP_006614.2:p.Thr147Pro
XM_011541226.1:c.661A>C	XP_011539528.1:p.Thr221Pro
XM_011541227.1:c.583A>C	XP_011539529.1:p.Thr195Pro
XM_011541228.1:c.550A>C	XP_011539530.1:p.Thr184Pro
XM_011541229.1:c.376A>C	XP_011539531.1:p.Thr126Pro
XM_011541230.1:c.154A>C	XP_011539532.1:p.Thr52Pro
XM_011541231.1:c.145A>C	XP_011539533.1:p.Thr49Pro
XM_011541226.2:c.661A>C	XP_011539528.1:p.Thr221Pro
XM_011541227.2:c.583A>C	XP_011539529.1:p.Thr195Pro
XM_011541228.2:c.550A>C	XP_011539530.1:p.Thr184Pro
XM_011541231.2:c.145A>C	XP_011539533.1:p.Thr49Pro
XM_024446338.1:c.550A>C	XP_024302106.1:p.Thr184Pro
NM_006623.4:c.439A>C MANE Select	NP_006614.2:p.Thr147Pro