Canonical Allele Identifier: CA341847652

Gene: PHGDH

Linked Data

• MyVariant Identifiers: chr1:g.120269625A>T (hg19) ; chr1:g.119727002A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119727002A>T , CM000663.2:g.119727002A>T	GRCh38
NC_000001.10:g.120269625A>T , CM000663.1:g.120269625A>T	GRCh37
NC_000001.9:g.120071148A>T	NCBI36
NG_009188.1:g.20207A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.412-2A>T	ENSP00000358417.5:n.412-2A>T
ENST00000462324.2:n.495-2A>T
ENST00000641023.2:c.412-2A>T MANE Select	ENSP00000493175.1:n.412-2A>T
ENST00000641074.1:c.412-2A>T	ENSP00000493446.1:n.412-2A>T
ENST00000641115.1:c.412-2A>T	ENSP00000493264.1:n.412-2A>T
ENST00000641213.1:c.*65-2A>T	ENSP00000493079.1:n.*65-2A>T
ENST00000641247.1:c.*131-2A>T	ENSP00000492955.1:n.*131-2A>T
ENST00000641272.1:c.346-2A>T	ENSP00000493432.1:n.346-2A>T
ENST00000641314.1:n.397-2A>T
ENST00000641371.1:c.326-2A>T	ENSP00000493305.1:n.326-2A>T
ENST00000641375.1:c.*248-2A>T	ENSP00000493089.1:n.*248-2A>T
ENST00000641491.1:c.*65-2A>T	ENSP00000493187.1:n.*65-2A>T
ENST00000641570.1:c.*131-2A>T	ENSP00000493213.1:n.*131-2A>T
ENST00000641573.1:n.500-2A>T
ENST00000641587.1:c.*123-2A>T	ENSP00000493453.1:n.*123-2A>T
ENST00000641597.1:c.412-2A>T	ENSP00000493382.1:n.412-2A>T
ENST00000641711.1:n.636-2A>T
ENST00000641756.1:c.*156-2A>T	ENSP00000493147.1:n.*156-2A>T
ENST00000641811.1:c.168-2A>T
ENST00000641847.1:n.271-2A>T
ENST00000641891.1:c.*238-2A>T	ENSP00000493288.1:n.*238-2A>T
ENST00000641927.1:n.352-2A>T
ENST00000641947.1:c.412-2A>T	ENSP00000492994.1:n.412-2A>T
ENST00000642021.1:n.534-2A>T
ENST00000642041.1:c.*451-2A>T	ENSP00000493415.1:n.*451-2A>T
ENST00000369407.3:c.310-2A>T	ENSP00000358415.3:n.310-2A>T
ENST00000369409.8:c.412-2A>T	ENSP00000358417.4:n.412-2A>T
ENST00000462324.1:n.680-2A>T
ENST00000493622.5:n.601-2A>T
NM_006623.3:c.412-2A>T	NP_006614.2:n.412-2A>T
XM_011541226.1:c.634-2A>T	XP_011539528.1:n.634-2A>T
XM_011541227.1:c.556-2A>T	XP_011539529.1:n.556-2A>T
XM_011541228.1:c.523-2A>T	XP_011539530.1:n.523-2A>T
XM_011541229.1:c.349-2A>T	XP_011539531.1:n.349-2A>T
XM_011541230.1:c.127-2A>T	XP_011539532.1:n.127-2A>T
XM_011541231.1:c.118-2A>T	XP_011539533.1:n.118-2A>T
XM_011541226.2:c.634-2A>T	XP_011539528.1:n.634-2A>T
XM_011541227.2:c.556-2A>T	XP_011539529.1:n.556-2A>T
XM_011541228.2:c.523-2A>T	XP_011539530.1:n.523-2A>T
XM_011541231.2:c.118-2A>T	XP_011539533.1:n.118-2A>T
XM_024446338.1:c.523-2A>T	XP_024302106.1:n.523-2A>T
NM_006623.4:c.412-2A>T MANE Select	NP_006614.2:n.412-2A>T