Canonical Allele Identifier: CA341851215

Gene: PHGDH

Linked Data

• dbSNP Id: rs1162075320
• gnomAD v2: 1-120279791-C-T
• gnomAD v4: 1-119737168-C-T
• MyVariant Identifiers: chr1:g.120279791C>T (hg19) ; chr1:g.119737168C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119737168C>T , CM000663.2:g.119737168C>T	GRCh38
NC_000001.10:g.120279791C>T , CM000663.1:g.120279791C>T	GRCh37
NC_000001.9:g.120081314C>T	NCBI36
NG_009188.1:g.30373C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.847C>T	ENSP00000358417.5:p.His283Tyr
ENST00000641023.2:c.847C>T MANE Select	ENSP00000493175.1:p.His283Tyr
ENST00000641074.1:c.847C>T	ENSP00000493446.1:p.His283Tyr
ENST00000641115.1:c.847C>T	ENSP00000493264.1:p.His283Tyr
ENST00000641213.1:c.*500C>T	ENSP00000493079.1:n.*500C>T
ENST00000641314.1:n.832C>T
ENST00000641375.1:c.*683C>T	ENSP00000493089.1:n.*683C>T
ENST00000641597.1:c.847C>T	ENSP00000493382.1:p.His283Tyr
ENST00000641756.1:c.*591C>T	ENSP00000493147.1:n.*591C>T
ENST00000641811.1:c.603C>T
ENST00000641891.1:c.*673C>T	ENSP00000493288.1:n.*673C>T
ENST00000641927.1:n.787C>T
ENST00000641947.1:c.847C>T	ENSP00000492994.1:p.His283Tyr
ENST00000642021.1:n.969C>T
ENST00000369407.3:c.745C>T	ENSP00000358415.3:p.His249Tyr
ENST00000369409.8:c.847C>T	ENSP00000358417.4:p.His283Tyr
NM_006623.3:c.847C>T	NP_006614.2:p.His283Tyr
XM_011541226.1:c.1069C>T	XP_011539528.1:p.His357Tyr
XM_011541227.1:c.991C>T	XP_011539529.1:p.His331Tyr
XM_011541228.1:c.958C>T	XP_011539530.1:p.His320Tyr
XM_011541229.1:c.784C>T	XP_011539531.1:p.His262Tyr
XM_011541230.1:c.562C>T	XP_011539532.1:p.His188Tyr
XM_011541231.1:c.553C>T	XP_011539533.1:p.His185Tyr
XM_011541226.2:c.1069C>T	XP_011539528.1:p.His357Tyr
XM_011541227.2:c.991C>T	XP_011539529.1:p.His331Tyr
XM_011541228.2:c.958C>T	XP_011539530.1:p.His320Tyr
XM_011541231.2:c.553C>T	XP_011539533.1:p.His185Tyr
XM_024446338.1:c.958C>T	XP_024302106.1:p.His320Tyr
NM_006623.4:c.847C>T MANE Select	NP_006614.2:p.His283Tyr