Canonical Allele Identifier: CA341851255

Gene: PHGDH

Linked Data

• MyVariant Identifiers: chr1:g.120279806A>C (hg19) ; chr1:g.119737183A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119737183A>C , CM000663.2:g.119737183A>C	GRCh38
NC_000001.10:g.120279806A>C , CM000663.1:g.120279806A>C	GRCh37
NC_000001.9:g.120081329A>C	NCBI36
NG_009188.1:g.30388A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.862A>C	ENSP00000358417.5:p.Thr288Pro
ENST00000641023.2:c.862A>C MANE Select	ENSP00000493175.1:p.Thr288Pro
ENST00000641074.1:c.862A>C	ENSP00000493446.1:p.Thr288Pro
ENST00000641115.1:c.862A>C	ENSP00000493264.1:p.Thr288Pro
ENST00000641213.1:c.*515A>C	ENSP00000493079.1:n.*515A>C
ENST00000641314.1:n.847A>C
ENST00000641375.1:c.*698A>C	ENSP00000493089.1:n.*698A>C
ENST00000641597.1:c.862A>C	ENSP00000493382.1:p.Thr288Pro
ENST00000641756.1:c.*606A>C	ENSP00000493147.1:n.*606A>C
ENST00000641811.1:c.618A>C
ENST00000641891.1:c.*688A>C	ENSP00000493288.1:n.*688A>C
ENST00000641927.1:n.802A>C
ENST00000641947.1:c.862A>C	ENSP00000492994.1:p.Thr288Pro
ENST00000642021.1:n.984A>C
ENST00000369407.3:c.760A>C	ENSP00000358415.3:p.Thr254Pro
ENST00000369409.8:c.862A>C	ENSP00000358417.4:p.Thr288Pro
NM_006623.3:c.862A>C	NP_006614.2:p.Thr288Pro
XM_011541226.1:c.1084A>C	XP_011539528.1:p.Thr362Pro
XM_011541227.1:c.1006A>C	XP_011539529.1:p.Thr336Pro
XM_011541228.1:c.973A>C	XP_011539530.1:p.Thr325Pro
XM_011541229.1:c.799A>C	XP_011539531.1:p.Thr267Pro
XM_011541230.1:c.577A>C	XP_011539532.1:p.Thr193Pro
XM_011541231.1:c.568A>C	XP_011539533.1:p.Thr190Pro
XM_011541226.2:c.1084A>C	XP_011539528.1:p.Thr362Pro
XM_011541227.2:c.1006A>C	XP_011539529.1:p.Thr336Pro
XM_011541228.2:c.973A>C	XP_011539530.1:p.Thr325Pro
XM_011541231.2:c.568A>C	XP_011539533.1:p.Thr190Pro
XM_024446338.1:c.973A>C	XP_024302106.1:p.Thr325Pro
NM_006623.4:c.862A>C MANE Select	NP_006614.2:p.Thr288Pro