Canonical Allele Identifier: CA341851107

Gene: PHGDH

Linked Data

• MyVariant Identifiers: chr1:g.120279756C>A (hg19) ; chr1:g.119737133C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119737133C>A , CM000663.2:g.119737133C>A	GRCh38
NC_000001.10:g.120279756C>A , CM000663.1:g.120279756C>A	GRCh37
NC_000001.9:g.120081279C>A	NCBI36
NG_009188.1:g.30338C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.812C>A	ENSP00000358417.5:p.Ala271Asp
ENST00000469443.2:n.632C>A
ENST00000641023.2:c.812C>A MANE Select	ENSP00000493175.1:p.Ala271Asp
ENST00000641074.1:c.812C>A	ENSP00000493446.1:p.Ala271Asp
ENST00000641115.1:c.812C>A	ENSP00000493264.1:p.Ala271Asp
ENST00000641213.1:c.*465C>A	ENSP00000493079.1:n.*465C>A
ENST00000641314.1:n.797C>A
ENST00000641375.1:c.*648C>A	ENSP00000493089.1:n.*648C>A
ENST00000641597.1:c.812C>A	ENSP00000493382.1:p.Ala271Asp
ENST00000641756.1:c.*556C>A	ENSP00000493147.1:n.*556C>A
ENST00000641811.1:c.568C>A
ENST00000641891.1:c.*638C>A	ENSP00000493288.1:n.*638C>A
ENST00000641927.1:n.752C>A
ENST00000641947.1:c.812C>A	ENSP00000492994.1:p.Ala271Asp
ENST00000642021.1:n.934C>A
ENST00000369407.3:c.710C>A	ENSP00000358415.3:p.Ala237Asp
ENST00000369409.8:c.812C>A	ENSP00000358417.4:p.Ala271Asp
NM_006623.3:c.812C>A	NP_006614.2:p.Ala271Asp
XM_011541226.1:c.1034C>A	XP_011539528.1:p.Ala345Asp
XM_011541227.1:c.956C>A	XP_011539529.1:p.Ala319Asp
XM_011541228.1:c.923C>A	XP_011539530.1:p.Ala308Asp
XM_011541229.1:c.749C>A	XP_011539531.1:p.Ala250Asp
XM_011541230.1:c.527C>A	XP_011539532.1:p.Ala176Asp
XM_011541231.1:c.518C>A	XP_011539533.1:p.Ala173Asp
XM_011541226.2:c.1034C>A	XP_011539528.1:p.Ala345Asp
XM_011541227.2:c.956C>A	XP_011539529.1:p.Ala319Asp
XM_011541228.2:c.923C>A	XP_011539530.1:p.Ala308Asp
XM_011541231.2:c.518C>A	XP_011539533.1:p.Ala173Asp
XM_024446338.1:c.923C>A	XP_024302106.1:p.Ala308Asp
NM_006623.4:c.812C>A MANE Select	NP_006614.2:p.Ala271Asp