Canonical Allele Identifier: CA420017143

Gene: PHGDH

Linked Data

• gnomAD v4: 1-119743915-C-T
• MyVariant Identifiers: chr1:g.120286538C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119743915C>T , CM000663.2:g.119743915C>T	GRCh38
NC_000001.10:g.120286538C>T , CM000663.1:g.120286538C>T	GRCh37
NC_000001.9:g.120088061C>T	NCBI36
NG_009188.1:g.37120C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.1496C>T	ENSP00000358417.5:p.Ala499Val
ENST00000641023.2:c.1477C>T MANE Select	ENSP00000493175.1:p.Leu493=
ENST00000641074.1:c.*56C>T	ENSP00000493446.1:n.*56C>T
ENST00000641115.1:c.1213C>T	ENSP00000493264.1:p.Leu405=
ENST00000641213.1:c.*1130C>T	ENSP00000493079.1:n.*1130C>T
ENST00000641314.1:n.1462C>T
ENST00000641375.1:c.*1313C>T	ENSP00000493089.1:n.*1313C>T
ENST00000641597.1:c.1477C>T	ENSP00000493382.1:p.Leu493=
ENST00000641756.1:c.*1221C>T	ENSP00000493147.1:n.*1221C>T
ENST00000641811.1:c.731C>T
ENST00000641891.1:c.*1303C>T	ENSP00000493288.1:n.*1303C>T
ENST00000641927.1:n.1417C>T
ENST00000641947.1:c.1456C>T	ENSP00000492994.1:p.Leu486=
ENST00000642021.1:n.2508C>T
ENST00000369407.3:c.1375C>T	ENSP00000358415.3:p.Leu459=
ENST00000369409.8:c.1477C>T	ENSP00000358417.4:p.Leu493=
ENST00000482968.1:n.1456C>T
NM_006623.3:c.1477C>T	NP_006614.2:p.Leu493=
XM_011541226.1:c.1699C>T	XP_011539528.1:p.Leu567=
XM_011541227.1:c.1621C>T	XP_011539529.1:p.Leu541=
XM_011541228.1:c.1588C>T	XP_011539530.1:p.Leu530=
XM_011541229.1:c.1414C>T	XP_011539531.1:p.Leu472=
XM_011541230.1:c.1192C>T	XP_011539532.1:p.Leu398=
XM_011541231.1:c.1183C>T	XP_011539533.1:p.Leu395=
XM_011541226.2:c.1699C>T	XP_011539528.1:p.Leu567=
XM_011541227.2:c.1621C>T	XP_011539529.1:p.Leu541=
XM_011541228.2:c.1588C>T	XP_011539530.1:p.Leu530=
XM_011541231.2:c.1183C>T	XP_011539533.1:p.Leu395=
XM_024446338.1:c.1588C>T	XP_024302106.1:p.Leu530=
NM_006623.4:c.1477C>T MANE Select	NP_006614.2:p.Leu493=