Canonical Allele Identifier: CA341847542

Gene: PHGDH

Linked Data

• MyVariant Identifiers: chr1:g.120269478A>C (hg19) ; chr1:g.119726855A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119726855A>C , CM000663.2:g.119726855A>C	GRCh38
NC_000001.10:g.120269478A>C , CM000663.1:g.120269478A>C	GRCh37
NC_000001.9:g.120071001A>C	NCBI36
NG_009188.1:g.20060A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.361A>C	ENSP00000358417.5:p.Ile121Leu
ENST00000462324.2:n.444A>C
ENST00000641023.2:c.361A>C MANE Select	ENSP00000493175.1:p.Ile121Leu
ENST00000641074.1:c.361A>C	ENSP00000493446.1:p.Ile121Leu
ENST00000641115.1:c.361A>C	ENSP00000493264.1:p.Ile121Leu
ENST00000641213.1:c.*14A>C	ENSP00000493079.1:n.*14A>C
ENST00000641247.1:c.*80A>C	ENSP00000492955.1:n.*80A>C
ENST00000641272.1:c.295A>C	ENSP00000493432.1:p.Ile99Leu
ENST00000641314.1:n.346A>C
ENST00000641371.1:c.275A>C	ENSP00000493305.1:p.Asp92Ala
ENST00000641375.1:c.*197A>C	ENSP00000493089.1:n.*197A>C
ENST00000641491.1:c.*14A>C	ENSP00000493187.1:n.*14A>C
ENST00000641513.1:c.*105A>C	ENSP00000493398.1:n.*105A>C
ENST00000641570.1:c.*80A>C	ENSP00000493213.1:n.*80A>C
ENST00000641573.1:n.449A>C
ENST00000641587.1:c.*72A>C	ENSP00000493453.1:n.*72A>C
ENST00000641597.1:c.361A>C	ENSP00000493382.1:p.Ile121Leu
ENST00000641711.1:n.585A>C
ENST00000641756.1:c.*105A>C	ENSP00000493147.1:n.*105A>C
ENST00000641811.1:c.117A>C
ENST00000641847.1:n.220A>C
ENST00000641891.1:c.*187A>C	ENSP00000493288.1:n.*187A>C
ENST00000641927.1:n.301A>C
ENST00000641947.1:c.361A>C	ENSP00000492994.1:p.Ile121Leu
ENST00000642021.1:n.483A>C
ENST00000642041.1:c.*400A>C	ENSP00000493415.1:n.*400A>C
ENST00000369407.3:c.259A>C	ENSP00000358415.3:p.Ile87Leu
ENST00000369409.8:c.361A>C	ENSP00000358417.4:p.Ile121Leu
ENST00000462324.1:n.629A>C
ENST00000493622.5:n.550A>C
NM_006623.3:c.361A>C	NP_006614.2:p.Ile121Leu
XM_011541226.1:c.583A>C	XP_011539528.1:p.Ile195Leu
XM_011541227.1:c.505A>C	XP_011539529.1:p.Ile169Leu
XM_011541228.1:c.472A>C	XP_011539530.1:p.Ile158Leu
XM_011541229.1:c.298A>C	XP_011539531.1:p.Ile100Leu
XM_011541230.1:c.76A>C	XP_011539532.1:p.Ile26Leu
XM_011541231.1:c.67A>C	XP_011539533.1:p.Ile23Leu
XM_011541226.2:c.583A>C	XP_011539528.1:p.Ile195Leu
XM_011541227.2:c.505A>C	XP_011539529.1:p.Ile169Leu
XM_011541228.2:c.472A>C	XP_011539530.1:p.Ile158Leu
XM_011541231.2:c.67A>C	XP_011539533.1:p.Ile23Leu
XM_024446338.1:c.472A>C	XP_024302106.1:p.Ile158Leu
NM_006623.4:c.361A>C MANE Select	NP_006614.2:p.Ile121Leu