Canonical Allele Identifier: CA341851111

Gene: PHGDH

Linked Data

• dbSNP Id: rs1193131299
• gnomAD v2: 1-120279758-T-G
• gnomAD v4: 1-119737135-T-G
• MyVariant Identifiers: chr1:g.120279758T>G (hg19) ; chr1:g.119737135T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119737135T>G , CM000663.2:g.119737135T>G	GRCh38
NC_000001.10:g.120279758T>G , CM000663.1:g.120279758T>G	GRCh37
NC_000001.9:g.120081281T>G	NCBI36
NG_009188.1:g.30340T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.814T>G	ENSP00000358417.5:p.Leu272Val
ENST00000469443.2:n.634T>G
ENST00000641023.2:c.814T>G MANE Select	ENSP00000493175.1:p.Leu272Val
ENST00000641074.1:c.814T>G	ENSP00000493446.1:p.Leu272Val
ENST00000641115.1:c.814T>G	ENSP00000493264.1:p.Leu272Val
ENST00000641213.1:c.*467T>G	ENSP00000493079.1:n.*467T>G
ENST00000641314.1:n.799T>G
ENST00000641375.1:c.*650T>G	ENSP00000493089.1:n.*650T>G
ENST00000641597.1:c.814T>G	ENSP00000493382.1:p.Leu272Val
ENST00000641756.1:c.*558T>G	ENSP00000493147.1:n.*558T>G
ENST00000641811.1:c.570T>G
ENST00000641891.1:c.*640T>G	ENSP00000493288.1:n.*640T>G
ENST00000641927.1:n.754T>G
ENST00000641947.1:c.814T>G	ENSP00000492994.1:p.Leu272Val
ENST00000642021.1:n.936T>G
ENST00000369407.3:c.712T>G	ENSP00000358415.3:p.Leu238Val
ENST00000369409.8:c.814T>G	ENSP00000358417.4:p.Leu272Val
NM_006623.3:c.814T>G	NP_006614.2:p.Leu272Val
XM_011541226.1:c.1036T>G	XP_011539528.1:p.Leu346Val
XM_011541227.1:c.958T>G	XP_011539529.1:p.Leu320Val
XM_011541228.1:c.925T>G	XP_011539530.1:p.Leu309Val
XM_011541229.1:c.751T>G	XP_011539531.1:p.Leu251Val
XM_011541230.1:c.529T>G	XP_011539532.1:p.Leu177Val
XM_011541231.1:c.520T>G	XP_011539533.1:p.Leu174Val
XM_011541226.2:c.1036T>G	XP_011539528.1:p.Leu346Val
XM_011541227.2:c.958T>G	XP_011539529.1:p.Leu320Val
XM_011541228.2:c.925T>G	XP_011539530.1:p.Leu309Val
XM_011541231.2:c.520T>G	XP_011539533.1:p.Leu174Val
XM_024446338.1:c.925T>G	XP_024302106.1:p.Leu309Val
NM_006623.4:c.814T>G MANE Select	NP_006614.2:p.Leu272Val