Canonical Allele Identifier: CA420017123

Gene: PHGDH

Linked Data

• ClinVar Variation Id: 2847669
• ClinVar RCV Id: RCV003608879
• dbSNP Id: rs1335512069
• gnomAD v2: 1-120286534-G-T
• gnomAD v4: 1-119743911-G-T
• MyVariant Identifiers: chr1:g.120286534G>T (hg19) ; chr1:g.119743911G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119743911G>T , CM000663.2:g.119743911G>T	GRCh38
NC_000001.10:g.120286534G>T , CM000663.1:g.120286534G>T	GRCh37
NC_000001.9:g.120088057G>T	NCBI36
NG_009188.1:g.37116G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.1492G>T	ENSP00000358417.5:p.Ala498Ser
ENST00000641023.2:c.1473G>T MANE Select	ENSP00000493175.1:p.Arg491=
ENST00000641074.1:c.*52G>T	ENSP00000493446.1:n.*52G>T
ENST00000641115.1:c.1209G>T	ENSP00000493264.1:p.Arg403=
ENST00000641213.1:c.*1126G>T	ENSP00000493079.1:n.*1126G>T
ENST00000641314.1:n.1458G>T
ENST00000641375.1:c.*1309G>T	ENSP00000493089.1:n.*1309G>T
ENST00000641597.1:c.1473G>T	ENSP00000493382.1:p.Arg491=
ENST00000641756.1:c.*1217G>T	ENSP00000493147.1:n.*1217G>T
ENST00000641811.1:c.727G>T
ENST00000641891.1:c.*1299G>T	ENSP00000493288.1:n.*1299G>T
ENST00000641927.1:n.1413G>T
ENST00000641947.1:c.1452G>T	ENSP00000492994.1:p.Arg484=
ENST00000642021.1:n.2504G>T
ENST00000369407.3:c.1371G>T	ENSP00000358415.3:p.Arg457=
ENST00000369409.8:c.1473G>T	ENSP00000358417.4:p.Arg491=
ENST00000482968.1:n.1452G>T
NM_006623.3:c.1473G>T	NP_006614.2:p.Arg491=
XM_011541226.1:c.1695G>T	XP_011539528.1:p.Arg565=
XM_011541227.1:c.1617G>T	XP_011539529.1:p.Arg539=
XM_011541228.1:c.1584G>T	XP_011539530.1:p.Arg528=
XM_011541229.1:c.1410G>T	XP_011539531.1:p.Arg470=
XM_011541230.1:c.1188G>T	XP_011539532.1:p.Arg396=
XM_011541231.1:c.1179G>T	XP_011539533.1:p.Arg393=
XM_011541226.2:c.1695G>T	XP_011539528.1:p.Arg565=
XM_011541227.2:c.1617G>T	XP_011539529.1:p.Arg539=
XM_011541228.2:c.1584G>T	XP_011539530.1:p.Arg528=
XM_011541231.2:c.1179G>T	XP_011539533.1:p.Arg393=
XM_024446338.1:c.1584G>T	XP_024302106.1:p.Arg528=
NM_006623.4:c.1473G>T MANE Select	NP_006614.2:p.Arg491=