Canonical Allele Identifier: CA2647398930

Gene: PHGDH

Linked Data

• gnomAD v4: 1-119743809-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119743809C>T , CM000663.2:g.119743809C>T	GRCh38
NC_000001.10:g.120286432C>T , CM000663.1:g.120286432C>T	GRCh37
NC_000001.9:g.120087955C>T	NCBI36
NG_009188.1:g.37014C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.1448-58C>T	ENSP00000358417.5:n.1448-58C>T
ENST00000641023.2:c.1448-77C>T MANE Select	ENSP00000493175.1:n.1448-77C>T
ENST00000641074.1:c.*27-77C>T	ENSP00000493446.1:n.*27-77C>T
ENST00000641115.1:c.1184-77C>T	ENSP00000493264.1:n.1184-77C>T
ENST00000641213.1:c.*1101-77C>T	ENSP00000493079.1:n.*1101-77C>T
ENST00000641314.1:n.1433-77C>T
ENST00000641375.1:c.*1284-77C>T	ENSP00000493089.1:n.*1284-77C>T
ENST00000641597.1:c.1448-77C>T	ENSP00000493382.1:n.1448-77C>T
ENST00000641756.1:c.*1192-77C>T	ENSP00000493147.1:n.*1192-77C>T
ENST00000641811.1:c.702-77C>T
ENST00000641891.1:c.*1274-77C>T	ENSP00000493288.1:n.*1274-77C>T
ENST00000641927.1:n.1388-77C>T
ENST00000641947.1:c.1427-77C>T	ENSP00000492994.1:n.1427-77C>T
ENST00000642021.1:n.2479-77C>T
ENST00000369407.3:c.1346-77C>T	ENSP00000358415.3:n.1346-77C>T
ENST00000369409.8:c.1448-77C>T	ENSP00000358417.4:n.1448-77C>T
ENST00000482968.1:n.1427-77C>T
NM_006623.3:c.1448-77C>T	NP_006614.2:n.1448-77C>T
XM_011541226.1:c.1670-77C>T	XP_011539528.1:n.1670-77C>T
XM_011541227.1:c.1592-77C>T	XP_011539529.1:n.1592-77C>T
XM_011541228.1:c.1559-77C>T	XP_011539530.1:n.1559-77C>T
XM_011541229.1:c.1385-77C>T	XP_011539531.1:n.1385-77C>T
XM_011541230.1:c.1163-77C>T	XP_011539532.1:n.1163-77C>T
XM_011541231.1:c.1154-77C>T	XP_011539533.1:n.1154-77C>T
XM_011541226.2:c.1670-77C>T	XP_011539528.1:n.1670-77C>T
XM_011541227.2:c.1592-77C>T	XP_011539529.1:n.1592-77C>T
XM_011541228.2:c.1559-77C>T	XP_011539530.1:n.1559-77C>T
XM_011541231.2:c.1154-77C>T	XP_011539533.1:n.1154-77C>T
XM_024446338.1:c.1559-77C>T	XP_024302106.1:n.1559-77C>T
NM_006623.4:c.1448-77C>T MANE Select	NP_006614.2:n.1448-77C>T