Canonical Allele Identifier: CA1037324

Gene: PHGDH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119740386G>A , CM000663.2:g.119740386G>A	GRCh38
NC_000001.10:g.120283009G>A , CM000663.1:g.120283009G>A	GRCh37
NC_000001.9:g.120084532G>A	NCBI36
NG_009188.1:g.33591G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.946G>A	ENSP00000358417.5:p.Val316Met
ENST00000641023.2:c.946G>A MANE Select	ENSP00000493175.1:p.Val316Met
ENST00000641074.1:c.946G>A	ENSP00000493446.1:p.Val316Met
ENST00000641115.1:c.946-2421G>A	ENSP00000493264.1:n.946-2421G>A
ENST00000641213.1:c.*599G>A	ENSP00000493079.1:n.*599G>A
ENST00000641314.1:n.931G>A
ENST00000641375.1:c.*782G>A	ENSP00000493089.1:n.*782G>A
ENST00000641597.1:c.946G>A	ENSP00000493382.1:p.Val316Met
ENST00000641756.1:c.*690G>A	ENSP00000493147.1:n.*690G>A
ENST00000641811.1:c.701+3120G>A
ENST00000641891.1:c.*772G>A	ENSP00000493288.1:n.*772G>A
ENST00000641927.1:n.886G>A
ENST00000641939.1:n.49G>A
ENST00000641947.1:c.946G>A	ENSP00000492994.1:p.Val316Met
ENST00000642021.1:n.1068G>A
ENST00000369407.3:c.844G>A	ENSP00000358415.3:p.Val282Met
ENST00000369409.8:c.946G>A	ENSP00000358417.4:p.Val316Met
ENST00000482968.1:n.925G>A
NM_006623.3:c.946G>A	NP_006614.2:p.Val316Met
XM_011541226.1:c.1168G>A	XP_011539528.1:p.Val390Met
XM_011541227.1:c.1090G>A	XP_011539529.1:p.Val364Met
XM_011541228.1:c.1057G>A	XP_011539530.1:p.Val353Met
XM_011541229.1:c.883G>A	XP_011539531.1:p.Val295Met
XM_011541230.1:c.661G>A	XP_011539532.1:p.Val221Met
XM_011541231.1:c.652G>A	XP_011539533.1:p.Val218Met
XM_011541226.2:c.1168G>A	XP_011539528.1:p.Val390Met
XM_011541227.2:c.1090G>A	XP_011539529.1:p.Val364Met
XM_011541228.2:c.1057G>A	XP_011539530.1:p.Val353Met
XM_011541231.2:c.652G>A	XP_011539533.1:p.Val218Met
XM_024446338.1:c.1057G>A	XP_024302106.1:p.Val353Met
NM_006623.4:c.946G>A MANE Select	NP_006614.2:p.Val316Met