Canonical Allele Identifier: CA2647393031

Gene: PHGDH

Linked Data

• gnomAD v4: 1-119726612-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119726612_119726613insT , CM000663.2:g.119726612_119726613insT	GRCh38
NC_000001.10:g.120269235_120269236insT , CM000663.1:g.120269235_120269236insT	GRCh37
NC_000001.9:g.120070758_120070759insT	NCBI36
NG_009188.1:g.19817_19818insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.357-239_357-238insT	ENSP00000358417.5:n.357-239_357-238insT
ENST00000462324.2:n.440-239_440-238insT
ENST00000641023.2:c.357-239_357-238insT MANE Select	ENSP00000493175.1:n.357-239_357-238insT
ENST00000641074.1:c.357-239_357-238insT	ENSP00000493446.1:n.357-239_357-238insT
ENST00000641115.1:c.357-239_357-238insT	ENSP00000493264.1:n.357-239_357-238insT
ENST00000641213.1:c.*10-239_*10-238insT	ENSP00000493079.1:n.*10-239_*10-238insT
ENST00000641247.1:c.*76-239_*76-238insT	ENSP00000492955.1:n.*76-239_*76-238insT
ENST00000641272.1:c.291-239_291-238insT	ENSP00000493432.1:n.291-239_291-238insT
ENST00000641314.1:n.342-239_342-238insT
ENST00000641371.1:c.271-239_271-238insT	ENSP00000493305.1:n.271-239_271-238insT
ENST00000641375.1:c.*193-239_*193-238insT	ENSP00000493089.1:n.*193-239_*193-238insT
ENST00000641491.1:c.*10-239_*10-238insT	ENSP00000493187.1:n.*10-239_*10-238insT
ENST00000641513.1:c.*101-239_*101-238insT	ENSP00000493398.1:n.*101-239_*101-238insT
ENST00000641570.1:c.*76-239_*76-238insT	ENSP00000493213.1:n.*76-239_*76-238insT
ENST00000641573.1:n.445-239_445-238insT
ENST00000641587.1:c.*68-239_*68-238insT	ENSP00000493453.1:n.*68-239_*68-238insT
ENST00000641597.1:c.357-239_357-238insT	ENSP00000493382.1:n.357-239_357-238insT
ENST00000641711.1:n.581-239_581-238insT
ENST00000641756.1:c.*101-239_*101-238insT	ENSP00000493147.1:n.*101-239_*101-238insT
ENST00000641811.1:c.113-239_113-238insT
ENST00000641891.1:c.*183-239_*183-238insT	ENSP00000493288.1:n.*183-239_*183-238insT
ENST00000641927.1:n.297-239_297-238insT
ENST00000641947.1:c.357-239_357-238insT	ENSP00000492994.1:n.357-239_357-238insT
ENST00000642021.1:n.479-239_479-238insT
ENST00000642041.1:c.*396-239_*396-238insT	ENSP00000493415.1:n.*396-239_*396-238insT
ENST00000369407.3:c.255-239_255-238insT	ENSP00000358415.3:n.255-239_255-238insT
ENST00000369409.8:c.357-239_357-238insT	ENSP00000358417.4:n.357-239_357-238insT
ENST00000462324.1:n.625-239_625-238insT
ENST00000493622.5:n.546-239_546-238insT
NM_006623.3:c.357-239_357-238insT	NP_006614.2:n.357-239_357-238insT
XM_011541226.1:c.579-239_579-238insT	XP_011539528.1:n.579-239_579-238insT
XM_011541227.1:c.501-239_501-238insT	XP_011539529.1:n.501-239_501-238insT
XM_011541228.1:c.468-239_468-238insT	XP_011539530.1:n.468-239_468-238insT
XM_011541229.1:c.294-239_294-238insT	XP_011539531.1:n.294-239_294-238insT
XM_011541230.1:c.72-239_72-238insT	XP_011539532.1:n.72-239_72-238insT
XM_011541231.1:c.63-239_63-238insT	XP_011539533.1:n.63-239_63-238insT
XM_011541226.2:c.579-239_579-238insT	XP_011539528.1:n.579-239_579-238insT
XM_011541227.2:c.501-239_501-238insT	XP_011539529.1:n.501-239_501-238insT
XM_011541228.2:c.468-239_468-238insT	XP_011539530.1:n.468-239_468-238insT
XM_011541231.2:c.63-239_63-238insT	XP_011539533.1:n.63-239_63-238insT
XM_024446338.1:c.468-239_468-238insT	XP_024302106.1:n.468-239_468-238insT
NM_006623.4:c.357-239_357-238insT MANE Select	NP_006614.2:n.357-239_357-238insT