Canonical Allele Identifier: CA116475

Gene: PHGDH

Linked Data

• ClinVar Variation Id: 3867
• ClinVar RCV Id: RCV000004071 ; RCV002251869 ; RCV003338378 ; RCV002482824
• dbSNP Id: rs121907987
• ExAC: 1:120286529 G / A
• gnomAD v2: 1-120286529-G-A
• gnomAD v3: 1-119743906-G-A
• gnomAD v4: 1-119743906-G-A
• MyVariant Identifiers: chr1:g.120286529G>A (hg19) ; chr1:g.119743906G>A (hg38)
• PubMed: PMID:11055895

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119743906G>A , CM000663.2:g.119743906G>A	GRCh38
NC_000001.10:g.120286529G>A , CM000663.1:g.120286529G>A	GRCh37
NC_000001.9:g.120088052G>A	NCBI36
NG_009188.1:g.37111G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.1487G>A	ENSP00000358417.5:p.Arg496His
ENST00000641023.2:c.1468G>A MANE Select	ENSP00000493175.1:p.Val490Met
ENST00000641074.1:c.*47G>A	ENSP00000493446.1:n.*47G>A
ENST00000641115.1:c.1204G>A	ENSP00000493264.1:p.Val402Met
ENST00000641213.1:c.*1121G>A	ENSP00000493079.1:n.*1121G>A
ENST00000641314.1:n.1453G>A
ENST00000641375.1:c.*1304G>A	ENSP00000493089.1:n.*1304G>A
ENST00000641597.1:c.1468G>A	ENSP00000493382.1:p.Val490Met
ENST00000641756.1:c.*1212G>A	ENSP00000493147.1:n.*1212G>A
ENST00000641811.1:c.722G>A
ENST00000641891.1:c.*1294G>A	ENSP00000493288.1:n.*1294G>A
ENST00000641927.1:n.1408G>A
ENST00000641947.1:c.1447G>A	ENSP00000492994.1:p.Val483Met
ENST00000642021.1:n.2499G>A
ENST00000369407.3:c.1366G>A	ENSP00000358415.3:p.Val456Met
ENST00000369409.8:c.1468G>A	ENSP00000358417.4:p.Val490Met
ENST00000482968.1:n.1447G>A
NM_006623.3:c.1468G>A	NP_006614.2:p.Val490Met
XM_011541226.1:c.1690G>A	XP_011539528.1:p.Val564Met
XM_011541227.1:c.1612G>A	XP_011539529.1:p.Val538Met
XM_011541228.1:c.1579G>A	XP_011539530.1:p.Val527Met
XM_011541229.1:c.1405G>A	XP_011539531.1:p.Val469Met
XM_011541230.1:c.1183G>A	XP_011539532.1:p.Val395Met
XM_011541231.1:c.1174G>A	XP_011539533.1:p.Val392Met
XM_011541226.2:c.1690G>A	XP_011539528.1:p.Val564Met
XM_011541227.2:c.1612G>A	XP_011539529.1:p.Val538Met
XM_011541228.2:c.1579G>A	XP_011539530.1:p.Val527Met
XM_011541231.2:c.1174G>A	XP_011539533.1:p.Val392Met
XM_024446338.1:c.1579G>A	XP_024302106.1:p.Val527Met
NM_006623.4:c.1468G>A MANE Select	NP_006614.2:p.Val490Met