Canonical Allele Identifier: CA420013947

Gene: PHGDH

Linked Data

• ClinVar Variation Id: 797467
• ClinVar RCV Id: RCV002066492
• dbSNP Id: rs1297161098
• gnomAD v4: 1-119737173-G-C
• MyVariant Identifiers: chr1:g.120279796G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119737173G>C , CM000663.2:g.119737173G>C	GRCh38
NC_000001.10:g.120279796G>C , CM000663.1:g.120279796G>C	GRCh37
NC_000001.9:g.120081319G>C	NCBI36
NG_009188.1:g.30378G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.852G>C	ENSP00000358417.5:p.Leu284=
ENST00000641023.2:c.852G>C MANE Select	ENSP00000493175.1:p.Leu284=
ENST00000641074.1:c.852G>C	ENSP00000493446.1:p.Leu284=
ENST00000641115.1:c.852G>C	ENSP00000493264.1:p.Leu284=
ENST00000641213.1:c.*505G>C	ENSP00000493079.1:n.*505G>C
ENST00000641314.1:n.837G>C
ENST00000641375.1:c.*688G>C	ENSP00000493089.1:n.*688G>C
ENST00000641597.1:c.852G>C	ENSP00000493382.1:p.Leu284=
ENST00000641756.1:c.*596G>C	ENSP00000493147.1:n.*596G>C
ENST00000641811.1:c.608G>C
ENST00000641891.1:c.*678G>C	ENSP00000493288.1:n.*678G>C
ENST00000641927.1:n.792G>C
ENST00000641947.1:c.852G>C	ENSP00000492994.1:p.Leu284=
ENST00000642021.1:n.974G>C
ENST00000369407.3:c.750G>C	ENSP00000358415.3:p.Leu250=
ENST00000369409.8:c.852G>C	ENSP00000358417.4:p.Leu284=
NM_006623.3:c.852G>C	NP_006614.2:p.Leu284=
XM_011541226.1:c.1074G>C	XP_011539528.1:p.Leu358=
XM_011541227.1:c.996G>C	XP_011539529.1:p.Leu332=
XM_011541228.1:c.963G>C	XP_011539530.1:p.Leu321=
XM_011541229.1:c.789G>C	XP_011539531.1:p.Leu263=
XM_011541230.1:c.567G>C	XP_011539532.1:p.Leu189=
XM_011541231.1:c.558G>C	XP_011539533.1:p.Leu186=
XM_011541226.2:c.1074G>C	XP_011539528.1:p.Leu358=
XM_011541227.2:c.996G>C	XP_011539529.1:p.Leu332=
XM_011541228.2:c.963G>C	XP_011539530.1:p.Leu321=
XM_011541231.2:c.558G>C	XP_011539533.1:p.Leu186=
XM_024446338.1:c.963G>C	XP_024302106.1:p.Leu321=
NM_006623.4:c.852G>C MANE Select	NP_006614.2:p.Leu284=