Canonical Allele Identifier: CA341851266

Gene: PHGDH

Linked Data

• MyVariant Identifiers: chr1:g.120279810A>T (hg19) ; chr1:g.119737187A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119737187A>T , CM000663.2:g.119737187A>T	GRCh38
NC_000001.10:g.120279810A>T , CM000663.1:g.120279810A>T	GRCh37
NC_000001.9:g.120081333A>T	NCBI36
NG_009188.1:g.30392A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.866A>T	ENSP00000358417.5:p.Lys289Met
ENST00000641023.2:c.866A>T MANE Select	ENSP00000493175.1:p.Lys289Met
ENST00000641074.1:c.866A>T	ENSP00000493446.1:p.Lys289Met
ENST00000641115.1:c.866A>T	ENSP00000493264.1:p.Lys289Met
ENST00000641213.1:c.*519A>T	ENSP00000493079.1:n.*519A>T
ENST00000641314.1:n.851A>T
ENST00000641375.1:c.*702A>T	ENSP00000493089.1:n.*702A>T
ENST00000641597.1:c.866A>T	ENSP00000493382.1:p.Lys289Met
ENST00000641756.1:c.*610A>T	ENSP00000493147.1:n.*610A>T
ENST00000641811.1:c.622A>T
ENST00000641891.1:c.*692A>T	ENSP00000493288.1:n.*692A>T
ENST00000641927.1:n.806A>T
ENST00000641947.1:c.866A>T	ENSP00000492994.1:p.Lys289Met
ENST00000642021.1:n.988A>T
ENST00000369407.3:c.764A>T	ENSP00000358415.3:p.Lys255Met
ENST00000369409.8:c.866A>T	ENSP00000358417.4:p.Lys289Met
NM_006623.3:c.866A>T	NP_006614.2:p.Lys289Met
XM_011541226.1:c.1088A>T	XP_011539528.1:p.Lys363Met
XM_011541227.1:c.1010A>T	XP_011539529.1:p.Lys337Met
XM_011541228.1:c.977A>T	XP_011539530.1:p.Lys326Met
XM_011541229.1:c.803A>T	XP_011539531.1:p.Lys268Met
XM_011541230.1:c.581A>T	XP_011539532.1:p.Lys194Met
XM_011541231.1:c.572A>T	XP_011539533.1:p.Lys191Met
XM_011541226.2:c.1088A>T	XP_011539528.1:p.Lys363Met
XM_011541227.2:c.1010A>T	XP_011539529.1:p.Lys337Met
XM_011541228.2:c.977A>T	XP_011539530.1:p.Lys326Met
XM_011541231.2:c.572A>T	XP_011539533.1:p.Lys191Met
XM_024446338.1:c.977A>T	XP_024302106.1:p.Lys326Met
NM_006623.4:c.866A>T MANE Select	NP_006614.2:p.Lys289Met