Canonical Allele Identifier: CA341851097

Gene: PHGDH

Linked Data

• MyVariant Identifiers: chr1:g.120279749G>C (hg19) ; chr1:g.119737126G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119737126G>C , CM000663.2:g.119737126G>C	GRCh38
NC_000001.10:g.120279749G>C , CM000663.1:g.120279749G>C	GRCh37
NC_000001.9:g.120081272G>C	NCBI36
NG_009188.1:g.30331G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.805G>C	ENSP00000358417.5:p.Asp269His
ENST00000469443.2:n.625G>C
ENST00000641023.2:c.805G>C MANE Select	ENSP00000493175.1:p.Asp269His
ENST00000641074.1:c.805G>C	ENSP00000493446.1:p.Asp269His
ENST00000641115.1:c.805G>C	ENSP00000493264.1:p.Asp269His
ENST00000641213.1:c.*458G>C	ENSP00000493079.1:n.*458G>C
ENST00000641314.1:n.790G>C
ENST00000641375.1:c.*641G>C	ENSP00000493089.1:n.*641G>C
ENST00000641597.1:c.805G>C	ENSP00000493382.1:p.Asp269His
ENST00000641756.1:c.*549G>C	ENSP00000493147.1:n.*549G>C
ENST00000641811.1:c.561G>C
ENST00000641891.1:c.*631G>C	ENSP00000493288.1:n.*631G>C
ENST00000641927.1:n.745G>C
ENST00000641947.1:c.805G>C	ENSP00000492994.1:p.Asp269His
ENST00000642021.1:n.927G>C
ENST00000369407.3:c.703G>C	ENSP00000358415.3:p.Asp235His
ENST00000369409.8:c.805G>C	ENSP00000358417.4:p.Asp269His
NM_006623.3:c.805G>C	NP_006614.2:p.Asp269His
XM_011541226.1:c.1027G>C	XP_011539528.1:p.Asp343His
XM_011541227.1:c.949G>C	XP_011539529.1:p.Asp317His
XM_011541228.1:c.916G>C	XP_011539530.1:p.Asp306His
XM_011541229.1:c.742G>C	XP_011539531.1:p.Asp248His
XM_011541230.1:c.520G>C	XP_011539532.1:p.Asp174His
XM_011541231.1:c.511G>C	XP_011539533.1:p.Asp171His
XM_011541226.2:c.1027G>C	XP_011539528.1:p.Asp343His
XM_011541227.2:c.949G>C	XP_011539529.1:p.Asp317His
XM_011541228.2:c.916G>C	XP_011539530.1:p.Asp306His
XM_011541231.2:c.511G>C	XP_011539533.1:p.Asp171His
XM_024446338.1:c.916G>C	XP_024302106.1:p.Asp306His
NM_006623.4:c.805G>C MANE Select	NP_006614.2:p.Asp269His