Canonical Allele Identifier: CA341854183

Gene: PHGDH

Linked Data

• MyVariant Identifiers: chr1:g.120286530T>C (hg19) ; chr1:g.119743907T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119743907T>C , CM000663.2:g.119743907T>C	GRCh38
NC_000001.10:g.120286530T>C , CM000663.1:g.120286530T>C	GRCh37
NC_000001.9:g.120088053T>C	NCBI36
NG_009188.1:g.37112T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.1488T>C	ENSP00000358417.5:p.Arg496=
ENST00000641023.2:c.1469T>C MANE Select	ENSP00000493175.1:p.Val490Ala
ENST00000641074.1:c.*48T>C	ENSP00000493446.1:n.*48T>C
ENST00000641115.1:c.1205T>C	ENSP00000493264.1:p.Val402Ala
ENST00000641213.1:c.*1122T>C	ENSP00000493079.1:n.*1122T>C
ENST00000641314.1:n.1454T>C
ENST00000641375.1:c.*1305T>C	ENSP00000493089.1:n.*1305T>C
ENST00000641597.1:c.1469T>C	ENSP00000493382.1:p.Val490Ala
ENST00000641756.1:c.*1213T>C	ENSP00000493147.1:n.*1213T>C
ENST00000641811.1:c.723T>C
ENST00000641891.1:c.*1295T>C	ENSP00000493288.1:n.*1295T>C
ENST00000641927.1:n.1409T>C
ENST00000641947.1:c.1448T>C	ENSP00000492994.1:p.Val483Ala
ENST00000642021.1:n.2500T>C
ENST00000369407.3:c.1367T>C	ENSP00000358415.3:p.Val456Ala
ENST00000369409.8:c.1469T>C	ENSP00000358417.4:p.Val490Ala
ENST00000482968.1:n.1448T>C
NM_006623.3:c.1469T>C	NP_006614.2:p.Val490Ala
XM_011541226.1:c.1691T>C	XP_011539528.1:p.Val564Ala
XM_011541227.1:c.1613T>C	XP_011539529.1:p.Val538Ala
XM_011541228.1:c.1580T>C	XP_011539530.1:p.Val527Ala
XM_011541229.1:c.1406T>C	XP_011539531.1:p.Val469Ala
XM_011541230.1:c.1184T>C	XP_011539532.1:p.Val395Ala
XM_011541231.1:c.1175T>C	XP_011539533.1:p.Val392Ala
XM_011541226.2:c.1691T>C	XP_011539528.1:p.Val564Ala
XM_011541227.2:c.1613T>C	XP_011539529.1:p.Val538Ala
XM_011541228.2:c.1580T>C	XP_011539530.1:p.Val527Ala
XM_011541231.2:c.1175T>C	XP_011539533.1:p.Val392Ala
XM_024446338.1:c.1580T>C	XP_024302106.1:p.Val527Ala
NM_006623.4:c.1469T>C MANE Select	NP_006614.2:p.Val490Ala