Canonical Allele Identifier: CA420014002

Gene: PHGDH

Linked Data

• MyVariant Identifiers: chr1:g.120279811G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119737188G>A , CM000663.2:g.119737188G>A	GRCh38
NC_000001.10:g.120279811G>A , CM000663.1:g.120279811G>A	GRCh37
NC_000001.9:g.120081334G>A	NCBI36
NG_009188.1:g.30393G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.867G>A	ENSP00000358417.5:p.Lys289=
ENST00000641023.2:c.867G>A MANE Select	ENSP00000493175.1:p.Lys289=
ENST00000641074.1:c.867G>A	ENSP00000493446.1:p.Lys289=
ENST00000641115.1:c.867G>A	ENSP00000493264.1:p.Lys289=
ENST00000641213.1:c.*520G>A	ENSP00000493079.1:n.*520G>A
ENST00000641314.1:n.852G>A
ENST00000641375.1:c.*703G>A	ENSP00000493089.1:n.*703G>A
ENST00000641597.1:c.867G>A	ENSP00000493382.1:p.Lys289=
ENST00000641756.1:c.*611G>A	ENSP00000493147.1:n.*611G>A
ENST00000641811.1:c.623G>A
ENST00000641891.1:c.*693G>A	ENSP00000493288.1:n.*693G>A
ENST00000641927.1:n.807G>A
ENST00000641947.1:c.867G>A	ENSP00000492994.1:p.Lys289=
ENST00000642021.1:n.989G>A
ENST00000369407.3:c.765G>A	ENSP00000358415.3:p.Lys255=
ENST00000369409.8:c.867G>A	ENSP00000358417.4:p.Lys289=
NM_006623.3:c.867G>A	NP_006614.2:p.Lys289=
XM_011541226.1:c.1089G>A	XP_011539528.1:p.Lys363=
XM_011541227.1:c.1011G>A	XP_011539529.1:p.Lys337=
XM_011541228.1:c.978G>A	XP_011539530.1:p.Lys326=
XM_011541229.1:c.804G>A	XP_011539531.1:p.Lys268=
XM_011541230.1:c.582G>A	XP_011539532.1:p.Lys194=
XM_011541231.1:c.573G>A	XP_011539533.1:p.Lys191=
XM_011541226.2:c.1089G>A	XP_011539528.1:p.Lys363=
XM_011541227.2:c.1011G>A	XP_011539529.1:p.Lys337=
XM_011541228.2:c.978G>A	XP_011539530.1:p.Lys326=
XM_011541231.2:c.573G>A	XP_011539533.1:p.Lys191=
XM_024446338.1:c.978G>A	XP_024302106.1:p.Lys326=
NM_006623.4:c.867G>A MANE Select	NP_006614.2:p.Lys289=