Canonical Allele Identifier: CA341851112

Gene: PHGDH

Linked Data

• MyVariant Identifiers: chr1:g.120279759T>A (hg19) ; chr1:g.119737136T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119737136T>A , CM000663.2:g.119737136T>A	GRCh38
NC_000001.10:g.120279759T>A , CM000663.1:g.120279759T>A	GRCh37
NC_000001.9:g.120081282T>A	NCBI36
NG_009188.1:g.30341T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.815T>A	ENSP00000358417.5:p.Leu272Ter
ENST00000469443.2:n.635T>A
ENST00000641023.2:c.815T>A MANE Select	ENSP00000493175.1:p.Leu272Ter
ENST00000641074.1:c.815T>A	ENSP00000493446.1:p.Leu272Ter
ENST00000641115.1:c.815T>A	ENSP00000493264.1:p.Leu272Ter
ENST00000641213.1:c.*468T>A	ENSP00000493079.1:n.*468T>A
ENST00000641314.1:n.800T>A
ENST00000641375.1:c.*651T>A	ENSP00000493089.1:n.*651T>A
ENST00000641597.1:c.815T>A	ENSP00000493382.1:p.Leu272Ter
ENST00000641756.1:c.*559T>A	ENSP00000493147.1:n.*559T>A
ENST00000641811.1:c.571T>A
ENST00000641891.1:c.*641T>A	ENSP00000493288.1:n.*641T>A
ENST00000641927.1:n.755T>A
ENST00000641947.1:c.815T>A	ENSP00000492994.1:p.Leu272Ter
ENST00000642021.1:n.937T>A
ENST00000369407.3:c.713T>A	ENSP00000358415.3:p.Leu238Ter
ENST00000369409.8:c.815T>A	ENSP00000358417.4:p.Leu272Ter
NM_006623.3:c.815T>A	NP_006614.2:p.Leu272Ter
XM_011541226.1:c.1037T>A	XP_011539528.1:p.Leu346Ter
XM_011541227.1:c.959T>A	XP_011539529.1:p.Leu320Ter
XM_011541228.1:c.926T>A	XP_011539530.1:p.Leu309Ter
XM_011541229.1:c.752T>A	XP_011539531.1:p.Leu251Ter
XM_011541230.1:c.530T>A	XP_011539532.1:p.Leu177Ter
XM_011541231.1:c.521T>A	XP_011539533.1:p.Leu174Ter
XM_011541226.2:c.1037T>A	XP_011539528.1:p.Leu346Ter
XM_011541227.2:c.959T>A	XP_011539529.1:p.Leu320Ter
XM_011541228.2:c.926T>A	XP_011539530.1:p.Leu309Ter
XM_011541231.2:c.521T>A	XP_011539533.1:p.Leu174Ter
XM_024446338.1:c.926T>A	XP_024302106.1:p.Leu309Ter
NM_006623.4:c.815T>A MANE Select	NP_006614.2:p.Leu272Ter