Canonical Allele Identifier: CA1037291

Gene: PHGDH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119737237A>G , CM000663.2:g.119737237A>G	GRCh38
NC_000001.10:g.120279860A>G , CM000663.1:g.120279860A>G	GRCh37
NC_000001.9:g.120081383A>G	NCBI36
NG_009188.1:g.30442A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.916A>G	ENSP00000358417.5:p.Met306Val
ENST00000641023.2:c.916A>G MANE Select	ENSP00000493175.1:p.Met306Val
ENST00000641074.1:c.916A>G	ENSP00000493446.1:p.Met306Val
ENST00000641115.1:c.916A>G	ENSP00000493264.1:p.Met306Val
ENST00000641213.1:c.*569A>G	ENSP00000493079.1:n.*569A>G
ENST00000641314.1:n.901A>G
ENST00000641375.1:c.*752A>G	ENSP00000493089.1:n.*752A>G
ENST00000641597.1:c.916A>G	ENSP00000493382.1:p.Met306Val
ENST00000641756.1:c.*660A>G	ENSP00000493147.1:n.*660A>G
ENST00000641811.1:c.672A>G
ENST00000641891.1:c.*742A>G	ENSP00000493288.1:n.*742A>G
ENST00000641927.1:n.856A>G
ENST00000641939.1:n.19A>G
ENST00000641947.1:c.916A>G	ENSP00000492994.1:p.Met306Val
ENST00000642021.1:n.1038A>G
ENST00000369407.3:c.814A>G	ENSP00000358415.3:p.Met272Val
ENST00000369409.8:c.916A>G	ENSP00000358417.4:p.Met306Val
NM_006623.3:c.916A>G	NP_006614.2:p.Met306Val
XM_011541226.1:c.1138A>G	XP_011539528.1:p.Met380Val
XM_011541227.1:c.1060A>G	XP_011539529.1:p.Met354Val
XM_011541228.1:c.1027A>G	XP_011539530.1:p.Met343Val
XM_011541229.1:c.853A>G	XP_011539531.1:p.Met285Val
XM_011541230.1:c.631A>G	XP_011539532.1:p.Met211Val
XM_011541231.1:c.622A>G	XP_011539533.1:p.Met208Val
XM_011541226.2:c.1138A>G	XP_011539528.1:p.Met380Val
XM_011541227.2:c.1060A>G	XP_011539529.1:p.Met354Val
XM_011541228.2:c.1027A>G	XP_011539530.1:p.Met343Val
XM_011541231.2:c.622A>G	XP_011539533.1:p.Met208Val
XM_024446338.1:c.1027A>G	XP_024302106.1:p.Met343Val
NM_006623.4:c.916A>G MANE Select	NP_006614.2:p.Met306Val