Canonical Allele Identifier: CA341851171

Gene: PHGDH

Linked Data

• dbSNP Id: rs2101204696
• MyVariant Identifiers: chr1:g.120279780T>G (hg19) ; chr1:g.119737157T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119737157T>G , CM000663.2:g.119737157T>G	GRCh38
NC_000001.10:g.120279780T>G , CM000663.1:g.120279780T>G	GRCh37
NC_000001.9:g.120081303T>G	NCBI36
NG_009188.1:g.30362T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.836T>G	ENSP00000358417.5:p.Ile279Ser
ENST00000641023.2:c.836T>G MANE Select	ENSP00000493175.1:p.Ile279Ser
ENST00000641074.1:c.836T>G	ENSP00000493446.1:p.Ile279Ser
ENST00000641115.1:c.836T>G	ENSP00000493264.1:p.Ile279Ser
ENST00000641213.1:c.*489T>G	ENSP00000493079.1:n.*489T>G
ENST00000641314.1:n.821T>G
ENST00000641375.1:c.*672T>G	ENSP00000493089.1:n.*672T>G
ENST00000641597.1:c.836T>G	ENSP00000493382.1:p.Ile279Ser
ENST00000641756.1:c.*580T>G	ENSP00000493147.1:n.*580T>G
ENST00000641811.1:c.592T>G
ENST00000641891.1:c.*662T>G	ENSP00000493288.1:n.*662T>G
ENST00000641927.1:n.776T>G
ENST00000641947.1:c.836T>G	ENSP00000492994.1:p.Ile279Ser
ENST00000642021.1:n.958T>G
ENST00000369407.3:c.734T>G	ENSP00000358415.3:p.Ile245Ser
ENST00000369409.8:c.836T>G	ENSP00000358417.4:p.Ile279Ser
NM_006623.3:c.836T>G	NP_006614.2:p.Ile279Ser
XM_011541226.1:c.1058T>G	XP_011539528.1:p.Ile353Ser
XM_011541227.1:c.980T>G	XP_011539529.1:p.Ile327Ser
XM_011541228.1:c.947T>G	XP_011539530.1:p.Ile316Ser
XM_011541229.1:c.773T>G	XP_011539531.1:p.Ile258Ser
XM_011541230.1:c.551T>G	XP_011539532.1:p.Ile184Ser
XM_011541231.1:c.542T>G	XP_011539533.1:p.Ile181Ser
XM_011541226.2:c.1058T>G	XP_011539528.1:p.Ile353Ser
XM_011541227.2:c.980T>G	XP_011539529.1:p.Ile327Ser
XM_011541228.2:c.947T>G	XP_011539530.1:p.Ile316Ser
XM_011541231.2:c.542T>G	XP_011539533.1:p.Ile181Ser
XM_024446338.1:c.947T>G	XP_024302106.1:p.Ile316Ser
NM_006623.4:c.836T>G MANE Select	NP_006614.2:p.Ile279Ser