Canonical Allele Identifier: CA341847668

Gene: PHGDH

Linked Data

• dbSNP Id: rs1651455983
• MyVariant Identifiers: chr1:g.120269631T>C (hg19) ; chr1:g.119727008T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119727008T>C , CM000663.2:g.119727008T>C	GRCh38
NC_000001.10:g.120269631T>C , CM000663.1:g.120269631T>C	GRCh37
NC_000001.9:g.120071154T>C	NCBI36
NG_009188.1:g.20213T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.416T>C	ENSP00000358417.5:p.Met139Thr
ENST00000462324.2:n.499T>C
ENST00000641023.2:c.416T>C MANE Select	ENSP00000493175.1:p.Met139Thr
ENST00000641074.1:c.416T>C	ENSP00000493446.1:p.Met139Thr
ENST00000641115.1:c.416T>C	ENSP00000493264.1:p.Met139Thr
ENST00000641213.1:c.*69T>C	ENSP00000493079.1:n.*69T>C
ENST00000641247.1:c.*135T>C	ENSP00000492955.1:n.*135T>C
ENST00000641272.1:c.350T>C	ENSP00000493432.1:p.Met117Thr
ENST00000641314.1:n.401T>C
ENST00000641371.1:c.330T>C	ENSP00000493305.1:p.His110=
ENST00000641375.1:c.*252T>C	ENSP00000493089.1:n.*252T>C
ENST00000641491.1:c.*69T>C	ENSP00000493187.1:n.*69T>C
ENST00000641570.1:c.*135T>C	ENSP00000493213.1:n.*135T>C
ENST00000641573.1:n.504T>C
ENST00000641587.1:c.*127T>C	ENSP00000493453.1:n.*127T>C
ENST00000641597.1:c.416T>C	ENSP00000493382.1:p.Met139Thr
ENST00000641711.1:n.640T>C
ENST00000641756.1:c.*160T>C	ENSP00000493147.1:n.*160T>C
ENST00000641811.1:c.172T>C
ENST00000641847.1:n.275T>C
ENST00000641891.1:c.*242T>C	ENSP00000493288.1:n.*242T>C
ENST00000641927.1:n.356T>C
ENST00000641947.1:c.416T>C	ENSP00000492994.1:p.Met139Thr
ENST00000642021.1:n.538T>C
ENST00000642041.1:c.*455T>C	ENSP00000493415.1:n.*455T>C
ENST00000369407.3:c.314T>C	ENSP00000358415.3:p.Met105Thr
ENST00000369409.8:c.416T>C	ENSP00000358417.4:p.Met139Thr
ENST00000462324.1:n.684T>C
ENST00000493622.5:n.605T>C
NM_006623.3:c.416T>C	NP_006614.2:p.Met139Thr
XM_011541226.1:c.638T>C	XP_011539528.1:p.Met213Thr
XM_011541227.1:c.560T>C	XP_011539529.1:p.Met187Thr
XM_011541228.1:c.527T>C	XP_011539530.1:p.Met176Thr
XM_011541229.1:c.353T>C	XP_011539531.1:p.Met118Thr
XM_011541230.1:c.131T>C	XP_011539532.1:p.Met44Thr
XM_011541231.1:c.122T>C	XP_011539533.1:p.Met41Thr
XM_011541226.2:c.638T>C	XP_011539528.1:p.Met213Thr
XM_011541227.2:c.560T>C	XP_011539529.1:p.Met187Thr
XM_011541228.2:c.527T>C	XP_011539530.1:p.Met176Thr
XM_011541231.2:c.122T>C	XP_011539533.1:p.Met41Thr
XM_024446338.1:c.527T>C	XP_024302106.1:p.Met176Thr
NM_006623.4:c.416T>C MANE Select	NP_006614.2:p.Met139Thr