Canonical Allele Identifier: CA341847725

Gene: PHGDH

Linked Data

• MyVariant Identifiers: chr1:g.120269658T>A (hg19) ; chr1:g.119727035T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119727035T>A , CM000663.2:g.119727035T>A	GRCh38
NC_000001.10:g.120269658T>A , CM000663.1:g.120269658T>A	GRCh37
NC_000001.9:g.120071181T>A	NCBI36
NG_009188.1:g.20240T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.443T>A	ENSP00000358417.5:p.Leu148Gln
ENST00000462324.2:n.526T>A
ENST00000641023.2:c.443T>A MANE Select	ENSP00000493175.1:p.Leu148Gln
ENST00000641074.1:c.443T>A	ENSP00000493446.1:p.Leu148Gln
ENST00000641115.1:c.443T>A	ENSP00000493264.1:p.Leu148Gln
ENST00000641213.1:c.*96T>A	ENSP00000493079.1:n.*96T>A
ENST00000641247.1:c.*162T>A	ENSP00000492955.1:n.*162T>A
ENST00000641272.1:c.377T>A	ENSP00000493432.1:p.Leu126Gln
ENST00000641314.1:n.428T>A
ENST00000641371.1:c.357T>A	ENSP00000493305.1:p.Pro119=
ENST00000641375.1:c.*279T>A	ENSP00000493089.1:n.*279T>A
ENST00000641491.1:c.*96T>A	ENSP00000493187.1:n.*96T>A
ENST00000641570.1:c.*162T>A	ENSP00000493213.1:n.*162T>A
ENST00000641573.1:n.531T>A
ENST00000641587.1:c.*154T>A	ENSP00000493453.1:n.*154T>A
ENST00000641597.1:c.443T>A	ENSP00000493382.1:p.Leu148Gln
ENST00000641711.1:n.667T>A
ENST00000641756.1:c.*187T>A	ENSP00000493147.1:n.*187T>A
ENST00000641811.1:c.199T>A
ENST00000641847.1:n.302T>A
ENST00000641891.1:c.*269T>A	ENSP00000493288.1:n.*269T>A
ENST00000641927.1:n.383T>A
ENST00000641947.1:c.443T>A	ENSP00000492994.1:p.Leu148Gln
ENST00000642021.1:n.565T>A
ENST00000642041.1:c.*482T>A	ENSP00000493415.1:n.*482T>A
ENST00000369407.3:c.341T>A	ENSP00000358415.3:p.Leu114Gln
ENST00000369409.8:c.443T>A	ENSP00000358417.4:p.Leu148Gln
ENST00000462324.1:n.711T>A
ENST00000493622.5:n.632T>A
NM_006623.3:c.443T>A	NP_006614.2:p.Leu148Gln
XM_011541226.1:c.665T>A	XP_011539528.1:p.Leu222Gln
XM_011541227.1:c.587T>A	XP_011539529.1:p.Leu196Gln
XM_011541228.1:c.554T>A	XP_011539530.1:p.Leu185Gln
XM_011541229.1:c.380T>A	XP_011539531.1:p.Leu127Gln
XM_011541230.1:c.158T>A	XP_011539532.1:p.Leu53Gln
XM_011541231.1:c.149T>A	XP_011539533.1:p.Leu50Gln
XM_011541226.2:c.665T>A	XP_011539528.1:p.Leu222Gln
XM_011541227.2:c.587T>A	XP_011539529.1:p.Leu196Gln
XM_011541228.2:c.554T>A	XP_011539530.1:p.Leu185Gln
XM_011541231.2:c.149T>A	XP_011539533.1:p.Leu50Gln
XM_024446338.1:c.554T>A	XP_024302106.1:p.Leu185Gln
NM_006623.4:c.443T>A MANE Select	NP_006614.2:p.Leu148Gln