Canonical Allele Identifier: CA1037071

Gene: PHGDH

Linked Data

• dbSNP Id: rs778638831
• ExAC: 1:120269499 A / T
• gnomAD v2: 1-120269499-A-T
• gnomAD v3: 1-119726876-A-T
• gnomAD v4: 1-119726876-A-T
• MyVariant Identifiers: chr1:g.120269499A>T (hg19) ; chr1:g.119726876A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119726876A>T , CM000663.2:g.119726876A>T	GRCh38
NC_000001.10:g.120269499A>T , CM000663.1:g.120269499A>T	GRCh37
NC_000001.9:g.120071022A>T	NCBI36
NG_009188.1:g.20081A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.382A>T	ENSP00000358417.5:p.Met128Leu
ENST00000462324.2:n.465A>T
ENST00000641023.2:c.382A>T MANE Select	ENSP00000493175.1:p.Met128Leu
ENST00000641074.1:c.382A>T	ENSP00000493446.1:p.Met128Leu
ENST00000641115.1:c.382A>T	ENSP00000493264.1:p.Met128Leu
ENST00000641213.1:c.*35A>T	ENSP00000493079.1:n.*35A>T
ENST00000641247.1:c.*101A>T	ENSP00000492955.1:n.*101A>T
ENST00000641272.1:c.316A>T	ENSP00000493432.1:p.Met106Leu
ENST00000641314.1:n.367A>T
ENST00000641371.1:c.296A>T	ENSP00000493305.1:p.Asp99Val
ENST00000641375.1:c.*218A>T	ENSP00000493089.1:n.*218A>T
ENST00000641491.1:c.*35A>T	ENSP00000493187.1:n.*35A>T
ENST00000641513.1:c.*126A>T	ENSP00000493398.1:n.*126A>T
ENST00000641570.1:c.*101A>T	ENSP00000493213.1:n.*101A>T
ENST00000641573.1:n.470A>T
ENST00000641587.1:c.*93A>T	ENSP00000493453.1:n.*93A>T
ENST00000641597.1:c.382A>T	ENSP00000493382.1:p.Met128Leu
ENST00000641711.1:n.606A>T
ENST00000641756.1:c.*126A>T	ENSP00000493147.1:n.*126A>T
ENST00000641811.1:c.138A>T
ENST00000641847.1:n.241A>T
ENST00000641891.1:c.*208A>T	ENSP00000493288.1:n.*208A>T
ENST00000641927.1:n.322A>T
ENST00000641947.1:c.382A>T	ENSP00000492994.1:p.Met128Leu
ENST00000642021.1:n.504A>T
ENST00000642041.1:c.*421A>T	ENSP00000493415.1:n.*421A>T
ENST00000369407.3:c.280A>T	ENSP00000358415.3:p.Met94Leu
ENST00000369409.8:c.382A>T	ENSP00000358417.4:p.Met128Leu
ENST00000462324.1:n.650A>T
ENST00000493622.5:n.571A>T
NM_006623.3:c.382A>T	NP_006614.2:p.Met128Leu
XM_011541226.1:c.604A>T	XP_011539528.1:p.Met202Leu
XM_011541227.1:c.526A>T	XP_011539529.1:p.Met176Leu
XM_011541228.1:c.493A>T	XP_011539530.1:p.Met165Leu
XM_011541229.1:c.319A>T	XP_011539531.1:p.Met107Leu
XM_011541230.1:c.97A>T	XP_011539532.1:p.Met33Leu
XM_011541231.1:c.88A>T	XP_011539533.1:p.Met30Leu
XM_011541226.2:c.604A>T	XP_011539528.1:p.Met202Leu
XM_011541227.2:c.526A>T	XP_011539529.1:p.Met176Leu
XM_011541228.2:c.493A>T	XP_011539530.1:p.Met165Leu
XM_011541231.2:c.88A>T	XP_011539533.1:p.Met30Leu
XM_024446338.1:c.493A>T	XP_024302106.1:p.Met165Leu
NM_006623.4:c.382A>T MANE Select	NP_006614.2:p.Met128Leu