Canonical Allele Identifier: CA341854286

Gene: PHGDH

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119743926G>C , CM000663.2:g.119743926G>C	GRCh38
NC_000001.10:g.120286549G>C , CM000663.1:g.120286549G>C	GRCh37
NC_000001.9:g.120088072G>C	NCBI36
NG_009188.1:g.37131G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.1507G>C	ENSP00000358417.5:p.Asp503His
ENST00000641023.2:c.1488G>C MANE Select	ENSP00000493175.1:p.Gln496His
ENST00000641074.1:c.*67G>C	ENSP00000493446.1:n.*67G>C
ENST00000641115.1:c.1224G>C	ENSP00000493264.1:p.Gln408His
ENST00000641213.1:c.*1141G>C	ENSP00000493079.1:n.*1141G>C
ENST00000641314.1:n.1473G>C
ENST00000641375.1:c.*1324G>C	ENSP00000493089.1:n.*1324G>C
ENST00000641597.1:c.1488G>C	ENSP00000493382.1:p.Gln496His
ENST00000641756.1:c.*1232G>C	ENSP00000493147.1:n.*1232G>C
ENST00000641811.1:c.742G>C
ENST00000641891.1:c.*1314G>C	ENSP00000493288.1:n.*1314G>C
ENST00000641927.1:n.1428G>C
ENST00000641947.1:c.1467G>C	ENSP00000492994.1:p.Gln489His
ENST00000642021.1:n.2519G>C
ENST00000369407.3:c.1386G>C	ENSP00000358415.3:p.Gln462His
ENST00000369409.8:c.1488G>C	ENSP00000358417.4:p.Gln496His
ENST00000482968.1:n.1467G>C
NM_006623.3:c.1488G>C	NP_006614.2:p.Gln496His
XM_011541226.1:c.1710G>C	XP_011539528.1:p.Gln570His
XM_011541227.1:c.1632G>C	XP_011539529.1:p.Gln544His
XM_011541228.1:c.1599G>C	XP_011539530.1:p.Gln533His
XM_011541229.1:c.1425G>C	XP_011539531.1:p.Gln475His
XM_011541230.1:c.1203G>C	XP_011539532.1:p.Gln401His
XM_011541231.1:c.1194G>C	XP_011539533.1:p.Gln398His
XM_011541226.2:c.1710G>C	XP_011539528.1:p.Gln570His
XM_011541227.2:c.1632G>C	XP_011539529.1:p.Gln544His
XM_011541228.2:c.1599G>C	XP_011539530.1:p.Gln533His
XM_011541231.2:c.1194G>C	XP_011539533.1:p.Gln398His
XM_024446338.1:c.1599G>C	XP_024302106.1:p.Gln533His
NM_006623.4:c.1488G>C MANE Select	NP_006614.2:p.Gln496His