Canonical Allele Identifier: CA420017108

Gene: PHGDH

Linked Data

• ClinVar Variation Id: 718407
• ClinVar RCV Id: RCV000891353
• dbSNP Id: rs1571022094
• gnomAD v3: 1-119743908-G-A
• gnomAD v4: 1-119743908-G-A
• COSMIC: COSM894693
• MyVariant Identifiers: chr1:g.120286531G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119743908G>A , CM000663.2:g.119743908G>A	GRCh38
NC_000001.10:g.120286531G>A , CM000663.1:g.120286531G>A	GRCh37
NC_000001.9:g.120088054G>A	NCBI36
NG_009188.1:g.37113G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.1489G>A	ENSP00000358417.5:p.Ala497Thr
ENST00000641023.2:c.1470G>A MANE Select	ENSP00000493175.1:p.Val490=
ENST00000641074.1:c.*49G>A	ENSP00000493446.1:n.*49G>A
ENST00000641115.1:c.1206G>A	ENSP00000493264.1:p.Val402=
ENST00000641213.1:c.*1123G>A	ENSP00000493079.1:n.*1123G>A
ENST00000641314.1:n.1455G>A
ENST00000641375.1:c.*1306G>A	ENSP00000493089.1:n.*1306G>A
ENST00000641597.1:c.1470G>A	ENSP00000493382.1:p.Val490=
ENST00000641756.1:c.*1214G>A	ENSP00000493147.1:n.*1214G>A
ENST00000641811.1:c.724G>A
ENST00000641891.1:c.*1296G>A	ENSP00000493288.1:n.*1296G>A
ENST00000641927.1:n.1410G>A
ENST00000641947.1:c.1449G>A	ENSP00000492994.1:p.Val483=
ENST00000642021.1:n.2501G>A
ENST00000369407.3:c.1368G>A	ENSP00000358415.3:p.Val456=
ENST00000369409.8:c.1470G>A	ENSP00000358417.4:p.Val490=
ENST00000482968.1:n.1449G>A
NM_006623.3:c.1470G>A	NP_006614.2:p.Val490=
XM_011541226.1:c.1692G>A	XP_011539528.1:p.Val564=
XM_011541227.1:c.1614G>A	XP_011539529.1:p.Val538=
XM_011541228.1:c.1581G>A	XP_011539530.1:p.Val527=
XM_011541229.1:c.1407G>A	XP_011539531.1:p.Val469=
XM_011541230.1:c.1185G>A	XP_011539532.1:p.Val395=
XM_011541231.1:c.1176G>A	XP_011539533.1:p.Val392=
XM_011541226.2:c.1692G>A	XP_011539528.1:p.Val564=
XM_011541227.2:c.1614G>A	XP_011539529.1:p.Val538=
XM_011541228.2:c.1581G>A	XP_011539530.1:p.Val527=
XM_011541231.2:c.1176G>A	XP_011539533.1:p.Val392=
XM_024446338.1:c.1581G>A	XP_024302106.1:p.Val527=
NM_006623.4:c.1470G>A MANE Select	NP_006614.2:p.Val490=