Canonical Allele Identifier: CA341854209

Gene: PHGDH

Linked Data

• MyVariant Identifiers: chr1:g.120286536T>C (hg19) ; chr1:g.119743913T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119743913T>C , CM000663.2:g.119743913T>C	GRCh38
NC_000001.10:g.120286536T>C , CM000663.1:g.120286536T>C	GRCh37
NC_000001.9:g.120088059T>C	NCBI36
NG_009188.1:g.37118T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.1494T>C	ENSP00000358417.5:p.Ala498=
ENST00000641023.2:c.1475T>C MANE Select	ENSP00000493175.1:p.Leu492Pro
ENST00000641074.1:c.*54T>C	ENSP00000493446.1:n.*54T>C
ENST00000641115.1:c.1211T>C	ENSP00000493264.1:p.Leu404Pro
ENST00000641213.1:c.*1128T>C	ENSP00000493079.1:n.*1128T>C
ENST00000641314.1:n.1460T>C
ENST00000641375.1:c.*1311T>C	ENSP00000493089.1:n.*1311T>C
ENST00000641597.1:c.1475T>C	ENSP00000493382.1:p.Leu492Pro
ENST00000641756.1:c.*1219T>C	ENSP00000493147.1:n.*1219T>C
ENST00000641811.1:c.729T>C
ENST00000641891.1:c.*1301T>C	ENSP00000493288.1:n.*1301T>C
ENST00000641927.1:n.1415T>C
ENST00000641947.1:c.1454T>C	ENSP00000492994.1:p.Leu485Pro
ENST00000642021.1:n.2506T>C
ENST00000369407.3:c.1373T>C	ENSP00000358415.3:p.Leu458Pro
ENST00000369409.8:c.1475T>C	ENSP00000358417.4:p.Leu492Pro
ENST00000482968.1:n.1454T>C
NM_006623.3:c.1475T>C	NP_006614.2:p.Leu492Pro
XM_011541226.1:c.1697T>C	XP_011539528.1:p.Leu566Pro
XM_011541227.1:c.1619T>C	XP_011539529.1:p.Leu540Pro
XM_011541228.1:c.1586T>C	XP_011539530.1:p.Leu529Pro
XM_011541229.1:c.1412T>C	XP_011539531.1:p.Leu471Pro
XM_011541230.1:c.1190T>C	XP_011539532.1:p.Leu397Pro
XM_011541231.1:c.1181T>C	XP_011539533.1:p.Leu394Pro
XM_011541226.2:c.1697T>C	XP_011539528.1:p.Leu566Pro
XM_011541227.2:c.1619T>C	XP_011539529.1:p.Leu540Pro
XM_011541228.2:c.1586T>C	XP_011539530.1:p.Leu529Pro
XM_011541231.2:c.1181T>C	XP_011539533.1:p.Leu394Pro
XM_024446338.1:c.1586T>C	XP_024302106.1:p.Leu529Pro
NM_006623.4:c.1475T>C MANE Select	NP_006614.2:p.Leu492Pro