Canonical Allele Identifier: CA2647398942

Gene: PHGDH

Linked Data

• gnomAD v4: 1-119743824-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119743824C>A , CM000663.2:g.119743824C>A	GRCh38
NC_000001.10:g.120286447C>A , CM000663.1:g.120286447C>A	GRCh37
NC_000001.9:g.120087970C>A	NCBI36
NG_009188.1:g.37029C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.1448-43C>A	ENSP00000358417.5:n.1448-43C>A
ENST00000641023.2:c.1448-62C>A MANE Select	ENSP00000493175.1:n.1448-62C>A
ENST00000641074.1:c.*27-62C>A	ENSP00000493446.1:n.*27-62C>A
ENST00000641115.1:c.1184-62C>A	ENSP00000493264.1:n.1184-62C>A
ENST00000641213.1:c.*1101-62C>A	ENSP00000493079.1:n.*1101-62C>A
ENST00000641314.1:n.1433-62C>A
ENST00000641375.1:c.*1284-62C>A	ENSP00000493089.1:n.*1284-62C>A
ENST00000641597.1:c.1448-62C>A	ENSP00000493382.1:n.1448-62C>A
ENST00000641756.1:c.*1192-62C>A	ENSP00000493147.1:n.*1192-62C>A
ENST00000641811.1:c.702-62C>A
ENST00000641891.1:c.*1274-62C>A	ENSP00000493288.1:n.*1274-62C>A
ENST00000641927.1:n.1388-62C>A
ENST00000641947.1:c.1427-62C>A	ENSP00000492994.1:n.1427-62C>A
ENST00000642021.1:n.2479-62C>A
ENST00000369407.3:c.1346-62C>A	ENSP00000358415.3:n.1346-62C>A
ENST00000369409.8:c.1448-62C>A	ENSP00000358417.4:n.1448-62C>A
ENST00000482968.1:n.1427-62C>A
NM_006623.3:c.1448-62C>A	NP_006614.2:n.1448-62C>A
XM_011541226.1:c.1670-62C>A	XP_011539528.1:n.1670-62C>A
XM_011541227.1:c.1592-62C>A	XP_011539529.1:n.1592-62C>A
XM_011541228.1:c.1559-62C>A	XP_011539530.1:n.1559-62C>A
XM_011541229.1:c.1385-62C>A	XP_011539531.1:n.1385-62C>A
XM_011541230.1:c.1163-62C>A	XP_011539532.1:n.1163-62C>A
XM_011541231.1:c.1154-62C>A	XP_011539533.1:n.1154-62C>A
XM_011541226.2:c.1670-62C>A	XP_011539528.1:n.1670-62C>A
XM_011541227.2:c.1592-62C>A	XP_011539529.1:n.1592-62C>A
XM_011541228.2:c.1559-62C>A	XP_011539530.1:n.1559-62C>A
XM_011541231.2:c.1154-62C>A	XP_011539533.1:n.1154-62C>A
XM_024446338.1:c.1559-62C>A	XP_024302106.1:n.1559-62C>A
NM_006623.4:c.1448-62C>A MANE Select	NP_006614.2:n.1448-62C>A