Canonical Allele Identifier: CA2647394841

Gene: PHGDH

Linked Data

• gnomAD v4: 1-119737077-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119737077C>T , CM000663.2:g.119737077C>T	GRCh38
NC_000001.10:g.120279700C>T , CM000663.1:g.120279700C>T	GRCh37
NC_000001.9:g.120081223C>T	NCBI36
NG_009188.1:g.30282C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000369409.9:c.793-37C>T	ENSP00000358417.5:n.793-37C>T
ENST00000469443.2:n.613-37C>T
ENST00000641023.2:c.793-37C>T MANE Select	ENSP00000493175.1:n.793-37C>T
ENST00000641074.1:c.793-37C>T	ENSP00000493446.1:n.793-37C>T
ENST00000641115.1:c.793-37C>T	ENSP00000493264.1:n.793-37C>T
ENST00000641213.1:c.*446-37C>T	ENSP00000493079.1:n.*446-37C>T
ENST00000641314.1:n.778-37C>T
ENST00000641375.1:c.*629-37C>T	ENSP00000493089.1:n.*629-37C>T
ENST00000641597.1:c.793-37C>T	ENSP00000493382.1:n.793-37C>T
ENST00000641756.1:c.*537-37C>T	ENSP00000493147.1:n.*537-37C>T
ENST00000641811.1:c.549-37C>T
ENST00000641891.1:c.*619-37C>T	ENSP00000493288.1:n.*619-37C>T
ENST00000641927.1:n.733-37C>T
ENST00000641947.1:c.793-37C>T	ENSP00000492994.1:n.793-37C>T
ENST00000642021.1:n.915-37C>T
ENST00000369407.3:c.691-37C>T	ENSP00000358415.3:n.691-37C>T
ENST00000369409.8:c.793-37C>T	ENSP00000358417.4:n.793-37C>T
NM_006623.3:c.793-37C>T	NP_006614.2:n.793-37C>T
XM_011541226.1:c.1015-37C>T	XP_011539528.1:n.1015-37C>T
XM_011541227.1:c.937-37C>T	XP_011539529.1:n.937-37C>T
XM_011541228.1:c.904-37C>T	XP_011539530.1:n.904-37C>T
XM_011541229.1:c.730-37C>T	XP_011539531.1:n.730-37C>T
XM_011541230.1:c.508-37C>T	XP_011539532.1:n.508-37C>T
XM_011541231.1:c.499-37C>T	XP_011539533.1:n.499-37C>T
XM_011541226.2:c.1015-37C>T	XP_011539528.1:n.1015-37C>T
XM_011541227.2:c.937-37C>T	XP_011539529.1:n.937-37C>T
XM_011541228.2:c.904-37C>T	XP_011539530.1:n.904-37C>T
XM_011541231.2:c.499-37C>T	XP_011539533.1:n.499-37C>T
XM_024446338.1:c.904-37C>T	XP_024302106.1:n.904-37C>T
NM_006623.4:c.793-37C>T MANE Select	NP_006614.2:n.793-37C>T