Canonical Allele Identifier: CA1192434153

Gene: PHGDH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119743907T= , CM000663.2:g.119743907T=	GRCh38
NC_000001.10:g.120286530T= , CM000663.1:g.120286530T=	GRCh37
NC_000001.9:g.120088053T=	NCBI36
NG_009188.1:g.37112T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.1488T=	ENSP00000358417.5:p.Arg496=
ENST00000641023.2:c.1469T= MANE Select	ENSP00000493175.1:p.Val490=
ENST00000641074.1:c.*48T=	ENSP00000493446.1:n.*48T=
ENST00000641115.1:c.1205T=	ENSP00000493264.1:p.Val402=
ENST00000641213.1:c.*1122T=	ENSP00000493079.1:n.*1122T=
ENST00000641314.1:n.1454T=
ENST00000641375.1:c.*1305T=	ENSP00000493089.1:n.*1305T=
ENST00000641597.1:c.1469T=	ENSP00000493382.1:p.Val490=
ENST00000641756.1:c.*1213T=	ENSP00000493147.1:n.*1213T=
ENST00000641811.1:c.723T=
ENST00000641891.1:c.*1295T=	ENSP00000493288.1:n.*1295T=
ENST00000641927.1:n.1409T=
ENST00000641947.1:c.1448T=	ENSP00000492994.1:p.Val483=
ENST00000642021.1:n.2500T=
ENST00000369407.3:c.1367T=	ENSP00000358415.3:p.Val456=
ENST00000369409.8:c.1469T=	ENSP00000358417.4:p.Val490=
ENST00000482968.1:n.1448T=
NM_006623.3:c.1469T=	NP_006614.2:p.Val490=
XM_011541226.1:c.1691T=	XP_011539528.1:p.Val564=
XM_011541227.1:c.1613T=	XP_011539529.1:p.Val538=
XM_011541228.1:c.1580T=	XP_011539530.1:p.Val527=
XM_011541229.1:c.1406T=	XP_011539531.1:p.Val469=
XM_011541230.1:c.1184T=	XP_011539532.1:p.Val395=
XM_011541231.1:c.1175T=	XP_011539533.1:p.Val392=
XM_011541226.2:c.1691T=	XP_011539528.1:p.Val564=
XM_011541227.2:c.1613T=	XP_011539529.1:p.Val538=
XM_011541228.2:c.1580T=	XP_011539530.1:p.Val527=
XM_011541231.2:c.1175T=	XP_011539533.1:p.Val392=
XM_024446338.1:c.1580T=	XP_024302106.1:p.Val527=
NM_006623.4:c.1469T= MANE Select	NP_006614.2:p.Val490=