Canonical Allele Identifier: CA341851325

Gene: PHGDH

Linked Data

• ClinVar Variation Id: 1988138
• ClinVar RCV Id: RCV002781148
• gnomAD v4: 1-119737202-G-T
• MyVariant Identifiers: chr1:g.120279825G>T (hg19) ; chr1:g.119737202G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119737202G>T , CM000663.2:g.119737202G>T	GRCh38
NC_000001.10:g.120279825G>T , CM000663.1:g.120279825G>T	GRCh37
NC_000001.9:g.120081348G>T	NCBI36
NG_009188.1:g.30407G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.881G>T	ENSP00000358417.5:p.Arg294Leu
ENST00000641023.2:c.881G>T MANE Select	ENSP00000493175.1:p.Arg294Leu
ENST00000641074.1:c.881G>T	ENSP00000493446.1:p.Arg294Leu
ENST00000641115.1:c.881G>T	ENSP00000493264.1:p.Arg294Leu
ENST00000641213.1:c.*534G>T	ENSP00000493079.1:n.*534G>T
ENST00000641314.1:n.866G>T
ENST00000641375.1:c.*717G>T	ENSP00000493089.1:n.*717G>T
ENST00000641597.1:c.881G>T	ENSP00000493382.1:p.Arg294Leu
ENST00000641756.1:c.*625G>T	ENSP00000493147.1:n.*625G>T
ENST00000641811.1:c.637G>T
ENST00000641891.1:c.*707G>T	ENSP00000493288.1:n.*707G>T
ENST00000641927.1:n.821G>T
ENST00000641947.1:c.881G>T	ENSP00000492994.1:p.Arg294Leu
ENST00000642021.1:n.1003G>T
ENST00000369407.3:c.779G>T	ENSP00000358415.3:p.Arg260Leu
ENST00000369409.8:c.881G>T	ENSP00000358417.4:p.Arg294Leu
NM_006623.3:c.881G>T	NP_006614.2:p.Arg294Leu
XM_011541226.1:c.1103G>T	XP_011539528.1:p.Arg368Leu
XM_011541227.1:c.1025G>T	XP_011539529.1:p.Arg342Leu
XM_011541228.1:c.992G>T	XP_011539530.1:p.Arg331Leu
XM_011541229.1:c.818G>T	XP_011539531.1:p.Arg273Leu
XM_011541230.1:c.596G>T	XP_011539532.1:p.Arg199Leu
XM_011541231.1:c.587G>T	XP_011539533.1:p.Arg196Leu
XM_011541226.2:c.1103G>T	XP_011539528.1:p.Arg368Leu
XM_011541227.2:c.1025G>T	XP_011539529.1:p.Arg342Leu
XM_011541228.2:c.992G>T	XP_011539530.1:p.Arg331Leu
XM_011541231.2:c.587G>T	XP_011539533.1:p.Arg196Leu
XM_024446338.1:c.992G>T	XP_024302106.1:p.Arg331Leu
NM_006623.4:c.881G>T MANE Select	NP_006614.2:p.Arg294Leu