Canonical Allele Identifier: CA30250062

Gene: PHGDH

Linked Data

• dbSNP Id: rs759764894
• gnomAD v2: 1-120269481-C-T
• gnomAD v3: 1-119726858-C-T
• gnomAD v4: 1-119726858-C-T
• MyVariant Identifiers: chr1:g.120269481C>T (hg19) ; chr1:g.119726858C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119726858C>T , CM000663.2:g.119726858C>T	GRCh38
NC_000001.10:g.120269481C>T , CM000663.1:g.120269481C>T	GRCh37
NC_000001.9:g.120071004C>T	NCBI36
NG_009188.1:g.20063C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.364C>T	ENSP00000358417.5:p.Pro122Ser
ENST00000462324.2:n.447C>T
ENST00000641023.2:c.364C>T MANE Select	ENSP00000493175.1:p.Pro122Ser
ENST00000641074.1:c.364C>T	ENSP00000493446.1:p.Pro122Ser
ENST00000641115.1:c.364C>T	ENSP00000493264.1:p.Pro122Ser
ENST00000641213.1:c.*17C>T	ENSP00000493079.1:n.*17C>T
ENST00000641247.1:c.*83C>T	ENSP00000492955.1:n.*83C>T
ENST00000641272.1:c.298C>T	ENSP00000493432.1:p.Pro100Ser
ENST00000641314.1:n.349C>T
ENST00000641371.1:c.278C>T	ENSP00000493305.1:p.Ser93Phe
ENST00000641375.1:c.*200C>T	ENSP00000493089.1:n.*200C>T
ENST00000641491.1:c.*17C>T	ENSP00000493187.1:n.*17C>T
ENST00000641513.1:c.*108C>T	ENSP00000493398.1:n.*108C>T
ENST00000641570.1:c.*83C>T	ENSP00000493213.1:n.*83C>T
ENST00000641573.1:n.452C>T
ENST00000641587.1:c.*75C>T	ENSP00000493453.1:n.*75C>T
ENST00000641597.1:c.364C>T	ENSP00000493382.1:p.Pro122Ser
ENST00000641711.1:n.588C>T
ENST00000641756.1:c.*108C>T	ENSP00000493147.1:n.*108C>T
ENST00000641811.1:c.120C>T
ENST00000641847.1:n.223C>T
ENST00000641891.1:c.*190C>T	ENSP00000493288.1:n.*190C>T
ENST00000641927.1:n.304C>T
ENST00000641947.1:c.364C>T	ENSP00000492994.1:p.Pro122Ser
ENST00000642021.1:n.486C>T
ENST00000642041.1:c.*403C>T	ENSP00000493415.1:n.*403C>T
ENST00000369407.3:c.262C>T	ENSP00000358415.3:p.Pro88Ser
ENST00000369409.8:c.364C>T	ENSP00000358417.4:p.Pro122Ser
ENST00000462324.1:n.632C>T
ENST00000493622.5:n.553C>T
NM_006623.3:c.364C>T	NP_006614.2:p.Pro122Ser
XM_011541226.1:c.586C>T	XP_011539528.1:p.Pro196Ser
XM_011541227.1:c.508C>T	XP_011539529.1:p.Pro170Ser
XM_011541228.1:c.475C>T	XP_011539530.1:p.Pro159Ser
XM_011541229.1:c.301C>T	XP_011539531.1:p.Pro101Ser
XM_011541230.1:c.79C>T	XP_011539532.1:p.Pro27Ser
XM_011541231.1:c.70C>T	XP_011539533.1:p.Pro24Ser
XM_011541226.2:c.586C>T	XP_011539528.1:p.Pro196Ser
XM_011541227.2:c.508C>T	XP_011539529.1:p.Pro170Ser
XM_011541228.2:c.475C>T	XP_011539530.1:p.Pro159Ser
XM_011541231.2:c.70C>T	XP_011539533.1:p.Pro24Ser
XM_024446338.1:c.475C>T	XP_024302106.1:p.Pro159Ser
NM_006623.4:c.364C>T MANE Select	NP_006614.2:p.Pro122Ser