Canonical Allele Identifier: CA2574042182

Gene: PHGDH

Linked Data

• gnomAD v4: 1-119726769-CTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119726772_119726773del , CM000663.2:g.119726772_119726773del	GRCh38
NC_000001.10:g.120269395_120269396del , CM000663.1:g.120269395_120269396del	GRCh37
NC_000001.9:g.120070918_120070919del	NCBI36
NG_009188.1:g.19977_19978del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.357-79_357-78del	ENSP00000358417.5:n.357-79_357-78del
ENST00000462324.2:n.440-79_440-78del
ENST00000641023.2:c.357-79_357-78del MANE Select	ENSP00000493175.1:n.357-79_357-78del
ENST00000641074.1:c.357-79_357-78del	ENSP00000493446.1:n.357-79_357-78del
ENST00000641115.1:c.357-79_357-78del	ENSP00000493264.1:n.357-79_357-78del
ENST00000641213.1:c.*10-79_*10-78del	ENSP00000493079.1:n.*10-79_*10-78del
ENST00000641247.1:c.*76-79_*76-78del	ENSP00000492955.1:n.*76-79_*76-78del
ENST00000641272.1:c.291-79_291-78del	ENSP00000493432.1:n.291-79_291-78del
ENST00000641314.1:n.342-79_342-78del
ENST00000641371.1:c.271-79_271-78del	ENSP00000493305.1:n.271-79_271-78del
ENST00000641375.1:c.*193-79_*193-78del	ENSP00000493089.1:n.*193-79_*193-78del
ENST00000641491.1:c.*10-79_*10-78del	ENSP00000493187.1:n.*10-79_*10-78del
ENST00000641513.1:c.*101-79_*101-78del	ENSP00000493398.1:n.*101-79_*101-78del
ENST00000641570.1:c.*76-79_*76-78del	ENSP00000493213.1:n.*76-79_*76-78del
ENST00000641573.1:n.445-79_445-78del
ENST00000641587.1:c.*68-79_*68-78del	ENSP00000493453.1:n.*68-79_*68-78del
ENST00000641597.1:c.357-79_357-78del	ENSP00000493382.1:n.357-79_357-78del
ENST00000641711.1:n.581-79_581-78del
ENST00000641756.1:c.*101-79_*101-78del	ENSP00000493147.1:n.*101-79_*101-78del
ENST00000641811.1:c.113-79_113-78del
ENST00000641847.1:n.137_138del
ENST00000641891.1:c.*183-79_*183-78del	ENSP00000493288.1:n.*183-79_*183-78del
ENST00000641927.1:n.297-79_297-78del
ENST00000641947.1:c.357-79_357-78del	ENSP00000492994.1:n.357-79_357-78del
ENST00000642021.1:n.479-79_479-78del
ENST00000642041.1:c.*396-79_*396-78del	ENSP00000493415.1:n.*396-79_*396-78del
ENST00000369407.3:c.255-79_255-78del	ENSP00000358415.3:n.255-79_255-78del
ENST00000369409.8:c.357-79_357-78del	ENSP00000358417.4:n.357-79_357-78del
ENST00000462324.1:n.625-79_625-78del
ENST00000493622.5:n.546-79_546-78del
NM_006623.3:c.357-79_357-78del	NP_006614.2:n.357-79_357-78del
XM_011541226.1:c.579-79_579-78del	XP_011539528.1:n.579-79_579-78del
XM_011541227.1:c.501-79_501-78del	XP_011539529.1:n.501-79_501-78del
XM_011541228.1:c.468-79_468-78del	XP_011539530.1:n.468-79_468-78del
XM_011541229.1:c.294-79_294-78del	XP_011539531.1:n.294-79_294-78del
XM_011541230.1:c.72-79_72-78del	XP_011539532.1:n.72-79_72-78del
XM_011541231.1:c.63-79_63-78del	XP_011539533.1:n.63-79_63-78del
XM_011541226.2:c.579-79_579-78del	XP_011539528.1:n.579-79_579-78del
XM_011541227.2:c.501-79_501-78del	XP_011539529.1:n.501-79_501-78del
XM_011541228.2:c.468-79_468-78del	XP_011539530.1:n.468-79_468-78del
XM_011541231.2:c.63-79_63-78del	XP_011539533.1:n.63-79_63-78del
XM_024446338.1:c.468-79_468-78del	XP_024302106.1:n.468-79_468-78del
NM_006623.4:c.357-79_357-78del MANE Select	NP_006614.2:n.357-79_357-78del