Canonical Allele Identifier: CA341851144

Gene: PHGDH

Linked Data

• MyVariant Identifiers: chr1:g.120279771A>T (hg19) ; chr1:g.119737148A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119737148A>T , CM000663.2:g.119737148A>T	GRCh38
NC_000001.10:g.120279771A>T , CM000663.1:g.120279771A>T	GRCh37
NC_000001.9:g.120081294A>T	NCBI36
NG_009188.1:g.30353A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.827A>T	ENSP00000358417.5:p.Glu276Val
ENST00000469443.2:n.647A>T
ENST00000641023.2:c.827A>T MANE Select	ENSP00000493175.1:p.Glu276Val
ENST00000641074.1:c.827A>T	ENSP00000493446.1:p.Glu276Val
ENST00000641115.1:c.827A>T	ENSP00000493264.1:p.Glu276Val
ENST00000641213.1:c.*480A>T	ENSP00000493079.1:n.*480A>T
ENST00000641314.1:n.812A>T
ENST00000641375.1:c.*663A>T	ENSP00000493089.1:n.*663A>T
ENST00000641597.1:c.827A>T	ENSP00000493382.1:p.Glu276Val
ENST00000641756.1:c.*571A>T	ENSP00000493147.1:n.*571A>T
ENST00000641811.1:c.583A>T
ENST00000641891.1:c.*653A>T	ENSP00000493288.1:n.*653A>T
ENST00000641927.1:n.767A>T
ENST00000641947.1:c.827A>T	ENSP00000492994.1:p.Glu276Val
ENST00000642021.1:n.949A>T
ENST00000369407.3:c.725A>T	ENSP00000358415.3:p.Glu242Val
ENST00000369409.8:c.827A>T	ENSP00000358417.4:p.Glu276Val
NM_006623.3:c.827A>T	NP_006614.2:p.Glu276Val
XM_011541226.1:c.1049A>T	XP_011539528.1:p.Glu350Val
XM_011541227.1:c.971A>T	XP_011539529.1:p.Glu324Val
XM_011541228.1:c.938A>T	XP_011539530.1:p.Glu313Val
XM_011541229.1:c.764A>T	XP_011539531.1:p.Glu255Val
XM_011541230.1:c.542A>T	XP_011539532.1:p.Glu181Val
XM_011541231.1:c.533A>T	XP_011539533.1:p.Glu178Val
XM_011541226.2:c.1049A>T	XP_011539528.1:p.Glu350Val
XM_011541227.2:c.971A>T	XP_011539529.1:p.Glu324Val
XM_011541228.2:c.938A>T	XP_011539530.1:p.Glu313Val
XM_011541231.2:c.533A>T	XP_011539533.1:p.Glu178Val
XM_024446338.1:c.938A>T	XP_024302106.1:p.Glu313Val
NM_006623.4:c.827A>T MANE Select	NP_006614.2:p.Glu276Val