Canonical Allele Identifier: CA341851116

Gene: PHGDH

Linked Data

• MyVariant Identifiers: chr1:g.120279760G>C (hg19) ; chr1:g.119737137G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119737137G>C , CM000663.2:g.119737137G>C	GRCh38
NC_000001.10:g.120279760G>C , CM000663.1:g.120279760G>C	GRCh37
NC_000001.9:g.120081283G>C	NCBI36
NG_009188.1:g.30342G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.816G>C	ENSP00000358417.5:p.Leu272Phe
ENST00000469443.2:n.636G>C
ENST00000641023.2:c.816G>C MANE Select	ENSP00000493175.1:p.Leu272Phe
ENST00000641074.1:c.816G>C	ENSP00000493446.1:p.Leu272Phe
ENST00000641115.1:c.816G>C	ENSP00000493264.1:p.Leu272Phe
ENST00000641213.1:c.*469G>C	ENSP00000493079.1:n.*469G>C
ENST00000641314.1:n.801G>C
ENST00000641375.1:c.*652G>C	ENSP00000493089.1:n.*652G>C
ENST00000641597.1:c.816G>C	ENSP00000493382.1:p.Leu272Phe
ENST00000641756.1:c.*560G>C	ENSP00000493147.1:n.*560G>C
ENST00000641811.1:c.572G>C
ENST00000641891.1:c.*642G>C	ENSP00000493288.1:n.*642G>C
ENST00000641927.1:n.756G>C
ENST00000641947.1:c.816G>C	ENSP00000492994.1:p.Leu272Phe
ENST00000642021.1:n.938G>C
ENST00000369407.3:c.714G>C	ENSP00000358415.3:p.Leu238Phe
ENST00000369409.8:c.816G>C	ENSP00000358417.4:p.Leu272Phe
NM_006623.3:c.816G>C	NP_006614.2:p.Leu272Phe
XM_011541226.1:c.1038G>C	XP_011539528.1:p.Leu346Phe
XM_011541227.1:c.960G>C	XP_011539529.1:p.Leu320Phe
XM_011541228.1:c.927G>C	XP_011539530.1:p.Leu309Phe
XM_011541229.1:c.753G>C	XP_011539531.1:p.Leu251Phe
XM_011541230.1:c.531G>C	XP_011539532.1:p.Leu177Phe
XM_011541231.1:c.522G>C	XP_011539533.1:p.Leu174Phe
XM_011541226.2:c.1038G>C	XP_011539528.1:p.Leu346Phe
XM_011541227.2:c.960G>C	XP_011539529.1:p.Leu320Phe
XM_011541228.2:c.927G>C	XP_011539530.1:p.Leu309Phe
XM_011541231.2:c.522G>C	XP_011539533.1:p.Leu174Phe
XM_024446338.1:c.927G>C	XP_024302106.1:p.Leu309Phe
NM_006623.4:c.816G>C MANE Select	NP_006614.2:p.Leu272Phe