Canonical Allele Identifier: CA341851224

Gene: PHGDH

Linked Data

• MyVariant Identifiers: chr1:g.120279794C>A (hg19) ; chr1:g.119737171C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119737171C>A , CM000663.2:g.119737171C>A	GRCh38
NC_000001.10:g.120279794C>A , CM000663.1:g.120279794C>A	GRCh37
NC_000001.9:g.120081317C>A	NCBI36
NG_009188.1:g.30376C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.850C>A	ENSP00000358417.5:p.Leu284Met
ENST00000641023.2:c.850C>A MANE Select	ENSP00000493175.1:p.Leu284Met
ENST00000641074.1:c.850C>A	ENSP00000493446.1:p.Leu284Met
ENST00000641115.1:c.850C>A	ENSP00000493264.1:p.Leu284Met
ENST00000641213.1:c.*503C>A	ENSP00000493079.1:n.*503C>A
ENST00000641314.1:n.835C>A
ENST00000641375.1:c.*686C>A	ENSP00000493089.1:n.*686C>A
ENST00000641597.1:c.850C>A	ENSP00000493382.1:p.Leu284Met
ENST00000641756.1:c.*594C>A	ENSP00000493147.1:n.*594C>A
ENST00000641811.1:c.606C>A
ENST00000641891.1:c.*676C>A	ENSP00000493288.1:n.*676C>A
ENST00000641927.1:n.790C>A
ENST00000641947.1:c.850C>A	ENSP00000492994.1:p.Leu284Met
ENST00000642021.1:n.972C>A
ENST00000369407.3:c.748C>A	ENSP00000358415.3:p.Leu250Met
ENST00000369409.8:c.850C>A	ENSP00000358417.4:p.Leu284Met
NM_006623.3:c.850C>A	NP_006614.2:p.Leu284Met
XM_011541226.1:c.1072C>A	XP_011539528.1:p.Leu358Met
XM_011541227.1:c.994C>A	XP_011539529.1:p.Leu332Met
XM_011541228.1:c.961C>A	XP_011539530.1:p.Leu321Met
XM_011541229.1:c.787C>A	XP_011539531.1:p.Leu263Met
XM_011541230.1:c.565C>A	XP_011539532.1:p.Leu189Met
XM_011541231.1:c.556C>A	XP_011539533.1:p.Leu186Met
XM_011541226.2:c.1072C>A	XP_011539528.1:p.Leu358Met
XM_011541227.2:c.994C>A	XP_011539529.1:p.Leu332Met
XM_011541228.2:c.961C>A	XP_011539530.1:p.Leu321Met
XM_011541231.2:c.556C>A	XP_011539533.1:p.Leu186Met
XM_024446338.1:c.961C>A	XP_024302106.1:p.Leu321Met
NM_006623.4:c.850C>A MANE Select	NP_006614.2:p.Leu284Met