Canonical Allele Identifier: CA2580060899

Gene: PHGDH

Linked Data

• ClinVar Variation Id: 2085734
• ClinVar RCV Id: RCV003005217
• gnomAD v4: 1-119727112-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119727112T>C , CM000663.2:g.119727112T>C	GRCh38
NC_000001.10:g.120269735T>C , CM000663.1:g.120269735T>C	GRCh37
NC_000001.9:g.120071258T>C	NCBI36
NG_009188.1:g.20317T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.510+10T>C	ENSP00000358417.5:n.510+10T>C
ENST00000462324.2:n.593+10T>C
ENST00000641023.2:c.510+10T>C MANE Select	ENSP00000493175.1:n.510+10T>C
ENST00000641074.1:c.510+10T>C	ENSP00000493446.1:n.510+10T>C
ENST00000641115.1:c.510+10T>C	ENSP00000493264.1:n.510+10T>C
ENST00000641213.1:c.*163+10T>C	ENSP00000493079.1:n.*163+10T>C
ENST00000641247.1:c.*229+10T>C	ENSP00000492955.1:n.*229+10T>C
ENST00000641272.1:c.444+10T>C	ENSP00000493432.1:n.444+10T>C
ENST00000641314.1:n.495+10T>C
ENST00000641371.1:c.424+10T>C	ENSP00000493305.1:n.424+10T>C
ENST00000641375.1:c.*346+10T>C	ENSP00000493089.1:n.*346+10T>C
ENST00000641455.1:n.55+10T>C
ENST00000641491.1:c.*163+10T>C	ENSP00000493187.1:n.*163+10T>C
ENST00000641570.1:c.*229+10T>C	ENSP00000493213.1:n.*229+10T>C
ENST00000641573.1:n.608T>C
ENST00000641587.1:c.*221+10T>C	ENSP00000493453.1:n.*221+10T>C
ENST00000641597.1:c.510+10T>C	ENSP00000493382.1:n.510+10T>C
ENST00000641756.1:c.*254+10T>C	ENSP00000493147.1:n.*254+10T>C
ENST00000641811.1:c.266+10T>C
ENST00000641847.1:n.379T>C
ENST00000641891.1:c.*336+10T>C	ENSP00000493288.1:n.*336+10T>C
ENST00000641927.1:n.450+10T>C
ENST00000641947.1:c.510+10T>C	ENSP00000492994.1:n.510+10T>C
ENST00000642021.1:n.632+10T>C
ENST00000369407.3:c.408+10T>C	ENSP00000358415.3:n.408+10T>C
ENST00000369409.8:c.510+10T>C	ENSP00000358417.4:n.510+10T>C
ENST00000462324.1:n.778+10T>C
ENST00000493622.5:n.699+10T>C
NM_006623.3:c.510+10T>C	NP_006614.2:n.510+10T>C
XM_011541226.1:c.732+10T>C	XP_011539528.1:n.732+10T>C
XM_011541227.1:c.654+10T>C	XP_011539529.1:n.654+10T>C
XM_011541228.1:c.621+10T>C	XP_011539530.1:n.621+10T>C
XM_011541229.1:c.447+10T>C	XP_011539531.1:n.447+10T>C
XM_011541230.1:c.225+10T>C	XP_011539532.1:n.225+10T>C
XM_011541231.1:c.216+10T>C	XP_011539533.1:n.216+10T>C
XM_011541226.2:c.732+10T>C	XP_011539528.1:n.732+10T>C
XM_011541227.2:c.654+10T>C	XP_011539529.1:n.654+10T>C
XM_011541228.2:c.621+10T>C	XP_011539530.1:n.621+10T>C
XM_011541231.2:c.216+10T>C	XP_011539533.1:n.216+10T>C
XM_024446338.1:c.621+10T>C	XP_024302106.1:n.621+10T>C
NM_006623.4:c.510+10T>C MANE Select	NP_006614.2:n.510+10T>C