Canonical Allele Identifier: CA1037069

Gene: PHGDH

Linked Data

• dbSNP Id: rs148897319
• ExAC: 1:120269494 C / T
• gnomAD v2: 1-120269494-C-T
• MyVariant Identifiers: chr1:g.120269494C>T (hg19) ; chr1:g.119726871C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119726871C>T , CM000663.2:g.119726871C>T	GRCh38
NC_000001.10:g.120269494C>T , CM000663.1:g.120269494C>T	GRCh37
NC_000001.9:g.120071017C>T	NCBI36
NG_009188.1:g.20076C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.377C>T	ENSP00000358417.5:p.Ala126Val
ENST00000462324.2:n.460C>T
ENST00000641023.2:c.377C>T MANE Select	ENSP00000493175.1:p.Ala126Val
ENST00000641074.1:c.377C>T	ENSP00000493446.1:p.Ala126Val
ENST00000641115.1:c.377C>T	ENSP00000493264.1:p.Ala126Val
ENST00000641213.1:c.*30C>T	ENSP00000493079.1:n.*30C>T
ENST00000641247.1:c.*96C>T	ENSP00000492955.1:n.*96C>T
ENST00000641272.1:c.311C>T	ENSP00000493432.1:p.Ala104Val
ENST00000641314.1:n.362C>T
ENST00000641371.1:c.291C>T	ENSP00000493305.1:p.Gly97=
ENST00000641375.1:c.*213C>T	ENSP00000493089.1:n.*213C>T
ENST00000641491.1:c.*30C>T	ENSP00000493187.1:n.*30C>T
ENST00000641513.1:c.*121C>T	ENSP00000493398.1:n.*121C>T
ENST00000641570.1:c.*96C>T	ENSP00000493213.1:n.*96C>T
ENST00000641573.1:n.465C>T
ENST00000641587.1:c.*88C>T	ENSP00000493453.1:n.*88C>T
ENST00000641597.1:c.377C>T	ENSP00000493382.1:p.Ala126Val
ENST00000641711.1:n.601C>T
ENST00000641756.1:c.*121C>T	ENSP00000493147.1:n.*121C>T
ENST00000641811.1:c.133C>T
ENST00000641847.1:n.236C>T
ENST00000641891.1:c.*203C>T	ENSP00000493288.1:n.*203C>T
ENST00000641927.1:n.317C>T
ENST00000641947.1:c.377C>T	ENSP00000492994.1:p.Ala126Val
ENST00000642021.1:n.499C>T
ENST00000642041.1:c.*416C>T	ENSP00000493415.1:n.*416C>T
ENST00000369407.3:c.275C>T	ENSP00000358415.3:p.Ala92Val
ENST00000369409.8:c.377C>T	ENSP00000358417.4:p.Ala126Val
ENST00000462324.1:n.645C>T
ENST00000493622.5:n.566C>T
NM_006623.3:c.377C>T	NP_006614.2:p.Ala126Val
XM_011541226.1:c.599C>T	XP_011539528.1:p.Ala200Val
XM_011541227.1:c.521C>T	XP_011539529.1:p.Ala174Val
XM_011541228.1:c.488C>T	XP_011539530.1:p.Ala163Val
XM_011541229.1:c.314C>T	XP_011539531.1:p.Ala105Val
XM_011541230.1:c.92C>T	XP_011539532.1:p.Ala31Val
XM_011541231.1:c.83C>T	XP_011539533.1:p.Ala28Val
XM_011541226.2:c.599C>T	XP_011539528.1:p.Ala200Val
XM_011541227.2:c.521C>T	XP_011539529.1:p.Ala174Val
XM_011541228.2:c.488C>T	XP_011539530.1:p.Ala163Val
XM_011541231.2:c.83C>T	XP_011539533.1:p.Ala28Val
XM_024446338.1:c.488C>T	XP_024302106.1:p.Ala163Val
NM_006623.4:c.377C>T MANE Select	NP_006614.2:p.Ala126Val