Canonical Allele Identifier: CA341851254

Gene: PHGDH

Linked Data

• MyVariant Identifiers: chr1:g.120279805C>G (hg19) ; chr1:g.119737182C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119737182C>G , CM000663.2:g.119737182C>G	GRCh38
NC_000001.10:g.120279805C>G , CM000663.1:g.120279805C>G	GRCh37
NC_000001.9:g.120081328C>G	NCBI36
NG_009188.1:g.30387C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.861C>G	ENSP00000358417.5:p.Ser287Arg
ENST00000641023.2:c.861C>G MANE Select	ENSP00000493175.1:p.Ser287Arg
ENST00000641074.1:c.861C>G	ENSP00000493446.1:p.Ser287Arg
ENST00000641115.1:c.861C>G	ENSP00000493264.1:p.Ser287Arg
ENST00000641213.1:c.*514C>G	ENSP00000493079.1:n.*514C>G
ENST00000641314.1:n.846C>G
ENST00000641375.1:c.*697C>G	ENSP00000493089.1:n.*697C>G
ENST00000641597.1:c.861C>G	ENSP00000493382.1:p.Ser287Arg
ENST00000641756.1:c.*605C>G	ENSP00000493147.1:n.*605C>G
ENST00000641811.1:c.617C>G
ENST00000641891.1:c.*687C>G	ENSP00000493288.1:n.*687C>G
ENST00000641927.1:n.801C>G
ENST00000641947.1:c.861C>G	ENSP00000492994.1:p.Ser287Arg
ENST00000642021.1:n.983C>G
ENST00000369407.3:c.759C>G	ENSP00000358415.3:p.Ser253Arg
ENST00000369409.8:c.861C>G	ENSP00000358417.4:p.Ser287Arg
NM_006623.3:c.861C>G	NP_006614.2:p.Ser287Arg
XM_011541226.1:c.1083C>G	XP_011539528.1:p.Ser361Arg
XM_011541227.1:c.1005C>G	XP_011539529.1:p.Ser335Arg
XM_011541228.1:c.972C>G	XP_011539530.1:p.Ser324Arg
XM_011541229.1:c.798C>G	XP_011539531.1:p.Ser266Arg
XM_011541230.1:c.576C>G	XP_011539532.1:p.Ser192Arg
XM_011541231.1:c.567C>G	XP_011539533.1:p.Ser189Arg
XM_011541226.2:c.1083C>G	XP_011539528.1:p.Ser361Arg
XM_011541227.2:c.1005C>G	XP_011539529.1:p.Ser335Arg
XM_011541228.2:c.972C>G	XP_011539530.1:p.Ser324Arg
XM_011541231.2:c.567C>G	XP_011539533.1:p.Ser189Arg
XM_024446338.1:c.972C>G	XP_024302106.1:p.Ser324Arg
NM_006623.4:c.861C>G MANE Select	NP_006614.2:p.Ser287Arg