Canonical Allele Identifier: CA341847649

Gene: PHGDH

Linked Data

• ClinVar Variation Id: 1483410
• ClinVar RCV Id: RCV001998760
• dbSNP Id: rs1302054606
• gnomAD v2: 1-120269530-T-C
• gnomAD v4: 1-119726907-T-C
• MyVariant Identifiers: chr1:g.120269530T>C (hg19) ; chr1:g.119726907T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119726907T>C , CM000663.2:g.119726907T>C	GRCh38
NC_000001.10:g.120269530T>C , CM000663.1:g.120269530T>C	GRCh37
NC_000001.9:g.120071053T>C	NCBI36
NG_009188.1:g.20112T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000369409.9:c.411+2T>C	ENSP00000358417.5:n.411+2T>C
ENST00000462324.2:n.494+2T>C
ENST00000641023.2:c.411+2T>C MANE Select	ENSP00000493175.1:n.411+2T>C
ENST00000641074.1:c.411+2T>C	ENSP00000493446.1:n.411+2T>C
ENST00000641115.1:c.411+2T>C	ENSP00000493264.1:n.411+2T>C
ENST00000641213.1:c.*64+2T>C	ENSP00000493079.1:n.*64+2T>C
ENST00000641247.1:c.*130+2T>C	ENSP00000492955.1:n.*130+2T>C
ENST00000641272.1:c.345+2T>C	ENSP00000493432.1:n.345+2T>C
ENST00000641314.1:n.396+2T>C
ENST00000641371.1:c.325+2T>C	ENSP00000493305.1:n.325+2T>C
ENST00000641375.1:c.*247+2T>C	ENSP00000493089.1:n.*247+2T>C
ENST00000641491.1:c.*64+2T>C	ENSP00000493187.1:n.*64+2T>C
ENST00000641570.1:c.*130+2T>C	ENSP00000493213.1:n.*130+2T>C
ENST00000641573.1:n.499+2T>C
ENST00000641587.1:c.*122+2T>C	ENSP00000493453.1:n.*122+2T>C
ENST00000641597.1:c.411+2T>C	ENSP00000493382.1:n.411+2T>C
ENST00000641711.1:n.635+2T>C
ENST00000641756.1:c.*155+2T>C	ENSP00000493147.1:n.*155+2T>C
ENST00000641811.1:c.167+2T>C
ENST00000641847.1:n.270+2T>C
ENST00000641891.1:c.*237+2T>C	ENSP00000493288.1:n.*237+2T>C
ENST00000641927.1:n.351+2T>C
ENST00000641947.1:c.411+2T>C	ENSP00000492994.1:n.411+2T>C
ENST00000642021.1:n.533+2T>C
ENST00000642041.1:c.*450+2T>C	ENSP00000493415.1:n.*450+2T>C
ENST00000369407.3:c.309+2T>C	ENSP00000358415.3:n.309+2T>C
ENST00000369409.8:c.411+2T>C	ENSP00000358417.4:n.411+2T>C
ENST00000462324.1:n.679+2T>C
ENST00000493622.5:n.600+2T>C
NM_006623.3:c.411+2T>C	NP_006614.2:n.411+2T>C
XM_011541226.1:c.633+2T>C	XP_011539528.1:n.633+2T>C
XM_011541227.1:c.555+2T>C	XP_011539529.1:n.555+2T>C
XM_011541228.1:c.522+2T>C	XP_011539530.1:n.522+2T>C
XM_011541229.1:c.348+2T>C	XP_011539531.1:n.348+2T>C
XM_011541230.1:c.126+2T>C	XP_011539532.1:n.126+2T>C
XM_011541231.1:c.117+2T>C	XP_011539533.1:n.117+2T>C
XM_011541226.2:c.633+2T>C	XP_011539528.1:n.633+2T>C
XM_011541227.2:c.555+2T>C	XP_011539529.1:n.555+2T>C
XM_011541228.2:c.522+2T>C	XP_011539530.1:n.522+2T>C
XM_011541231.2:c.117+2T>C	XP_011539533.1:n.117+2T>C
XM_024446338.1:c.522+2T>C	XP_024302106.1:n.522+2T>C
NM_006623.4:c.411+2T>C MANE Select	NP_006614.2:n.411+2T>C