Canonical Allele Identifier: CA1037260

Gene: PHGDH

Linked Data

• dbSNP Id: rs747951970
• ExAC: 1:120279713 T / A
• gnomAD v2: 1-120279713-T-A
• gnomAD v4: 1-119737090-T-A
• MyVariant Identifiers: chr1:g.120279713T>A (hg19) ; chr1:g.119737090T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119737090T>A , CM000663.2:g.119737090T>A	GRCh38
NC_000001.10:g.120279713T>A , CM000663.1:g.120279713T>A	GRCh37
NC_000001.9:g.120081236T>A	NCBI36
NG_009188.1:g.30295T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.793-24T>A	ENSP00000358417.5:n.793-24T>A
ENST00000469443.2:n.613-24T>A
ENST00000641023.2:c.793-24T>A MANE Select	ENSP00000493175.1:n.793-24T>A
ENST00000641074.1:c.793-24T>A	ENSP00000493446.1:n.793-24T>A
ENST00000641115.1:c.793-24T>A	ENSP00000493264.1:n.793-24T>A
ENST00000641213.1:c.*446-24T>A	ENSP00000493079.1:n.*446-24T>A
ENST00000641314.1:n.778-24T>A
ENST00000641375.1:c.*629-24T>A	ENSP00000493089.1:n.*629-24T>A
ENST00000641597.1:c.793-24T>A	ENSP00000493382.1:n.793-24T>A
ENST00000641756.1:c.*537-24T>A	ENSP00000493147.1:n.*537-24T>A
ENST00000641811.1:c.549-24T>A
ENST00000641891.1:c.*619-24T>A	ENSP00000493288.1:n.*619-24T>A
ENST00000641927.1:n.733-24T>A
ENST00000641947.1:c.793-24T>A	ENSP00000492994.1:n.793-24T>A
ENST00000642021.1:n.915-24T>A
ENST00000369407.3:c.691-24T>A	ENSP00000358415.3:n.691-24T>A
ENST00000369409.8:c.793-24T>A	ENSP00000358417.4:n.793-24T>A
NM_006623.3:c.793-24T>A	NP_006614.2:n.793-24T>A
XM_011541226.1:c.1015-24T>A	XP_011539528.1:n.1015-24T>A
XM_011541227.1:c.937-24T>A	XP_011539529.1:n.937-24T>A
XM_011541228.1:c.904-24T>A	XP_011539530.1:n.904-24T>A
XM_011541229.1:c.730-24T>A	XP_011539531.1:n.730-24T>A
XM_011541230.1:c.508-24T>A	XP_011539532.1:n.508-24T>A
XM_011541231.1:c.499-24T>A	XP_011539533.1:n.499-24T>A
XM_011541226.2:c.1015-24T>A	XP_011539528.1:n.1015-24T>A
XM_011541227.2:c.937-24T>A	XP_011539529.1:n.937-24T>A
XM_011541228.2:c.904-24T>A	XP_011539530.1:n.904-24T>A
XM_011541231.2:c.499-24T>A	XP_011539533.1:n.499-24T>A
XM_024446338.1:c.904-24T>A	XP_024302106.1:n.904-24T>A
NM_006623.4:c.793-24T>A MANE Select	NP_006614.2:n.793-24T>A