Canonical Allele Identifier: CA1142399270

Gene: PHGDH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119737144C= , CM000663.2:g.119737144C=	GRCh38
NC_000001.10:g.120279767C= , CM000663.1:g.120279767C=	GRCh37
NC_000001.9:g.120081290C=	NCBI36
NG_009188.1:g.30349C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.823C=	ENSP00000358417.5:p.His275=
ENST00000469443.2:n.643C=
ENST00000641023.2:c.823C= MANE Select	ENSP00000493175.1:p.His275=
ENST00000641074.1:c.823C=	ENSP00000493446.1:p.His275=
ENST00000641115.1:c.823C=	ENSP00000493264.1:p.His275=
ENST00000641213.1:c.*476C=	ENSP00000493079.1:n.*476C=
ENST00000641314.1:n.808C=
ENST00000641375.1:c.*659C=	ENSP00000493089.1:n.*659C=
ENST00000641597.1:c.823C=	ENSP00000493382.1:p.His275=
ENST00000641756.1:c.*567C=	ENSP00000493147.1:n.*567C=
ENST00000641811.1:c.579C=
ENST00000641891.1:c.*649C=	ENSP00000493288.1:n.*649C=
ENST00000641927.1:n.763C=
ENST00000641947.1:c.823C=	ENSP00000492994.1:p.His275=
ENST00000642021.1:n.945C=
ENST00000369407.3:c.721C=	ENSP00000358415.3:p.His241=
ENST00000369409.8:c.823C=	ENSP00000358417.4:p.His275=
NM_006623.3:c.823C=	NP_006614.2:p.His275=
XM_011541226.1:c.1045C=	XP_011539528.1:p.His349=
XM_011541227.1:c.967C=	XP_011539529.1:p.His323=
XM_011541228.1:c.934C=	XP_011539530.1:p.His312=
XM_011541229.1:c.760C=	XP_011539531.1:p.His254=
XM_011541230.1:c.538C=	XP_011539532.1:p.His180=
XM_011541231.1:c.529C=	XP_011539533.1:p.His177=
XM_011541226.2:c.1045C=	XP_011539528.1:p.His349=
XM_011541227.2:c.967C=	XP_011539529.1:p.His323=
XM_011541228.2:c.934C=	XP_011539530.1:p.His312=
XM_011541231.2:c.529C=	XP_011539533.1:p.His177=
XM_024446338.1:c.934C=	XP_024302106.1:p.His312=
NM_006623.4:c.823C= MANE Select	NP_006614.2:p.His275=