Canonical Allele Identifier: CA341847585

Gene: PHGDH

Linked Data

• ClinVar Variation Id: 2822145
• ClinVar RCV Id: RCV003610312
• MyVariant Identifiers: chr1:g.120269502A>T (hg19) ; chr1:g.119726879A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119726879A>T , CM000663.2:g.119726879A>T	GRCh38
NC_000001.10:g.120269502A>T , CM000663.1:g.120269502A>T	GRCh37
NC_000001.9:g.120071025A>T	NCBI36
NG_009188.1:g.20084A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.385A>T	ENSP00000358417.5:p.Lys129Ter
ENST00000462324.2:n.468A>T
ENST00000641023.2:c.385A>T MANE Select	ENSP00000493175.1:p.Lys129Ter
ENST00000641074.1:c.385A>T	ENSP00000493446.1:p.Lys129Ter
ENST00000641115.1:c.385A>T	ENSP00000493264.1:p.Lys129Ter
ENST00000641213.1:c.*38A>T	ENSP00000493079.1:n.*38A>T
ENST00000641247.1:c.*104A>T	ENSP00000492955.1:n.*104A>T
ENST00000641272.1:c.319A>T	ENSP00000493432.1:p.Lys107Ter
ENST00000641314.1:n.370A>T
ENST00000641371.1:c.299A>T	ENSP00000493305.1:p.Glu100Val
ENST00000641375.1:c.*221A>T	ENSP00000493089.1:n.*221A>T
ENST00000641491.1:c.*38A>T	ENSP00000493187.1:n.*38A>T
ENST00000641513.1:c.*129A>T	ENSP00000493398.1:n.*129A>T
ENST00000641570.1:c.*104A>T	ENSP00000493213.1:n.*104A>T
ENST00000641573.1:n.473A>T
ENST00000641587.1:c.*96A>T	ENSP00000493453.1:n.*96A>T
ENST00000641597.1:c.385A>T	ENSP00000493382.1:p.Lys129Ter
ENST00000641711.1:n.609A>T
ENST00000641756.1:c.*129A>T	ENSP00000493147.1:n.*129A>T
ENST00000641811.1:c.141A>T
ENST00000641847.1:n.244A>T
ENST00000641891.1:c.*211A>T	ENSP00000493288.1:n.*211A>T
ENST00000641927.1:n.325A>T
ENST00000641947.1:c.385A>T	ENSP00000492994.1:p.Lys129Ter
ENST00000642021.1:n.507A>T
ENST00000642041.1:c.*424A>T	ENSP00000493415.1:n.*424A>T
ENST00000369407.3:c.283A>T	ENSP00000358415.3:p.Lys95Ter
ENST00000369409.8:c.385A>T	ENSP00000358417.4:p.Lys129Ter
ENST00000462324.1:n.653A>T
ENST00000493622.5:n.574A>T
NM_006623.3:c.385A>T	NP_006614.2:p.Lys129Ter
XM_011541226.1:c.607A>T	XP_011539528.1:p.Lys203Ter
XM_011541227.1:c.529A>T	XP_011539529.1:p.Lys177Ter
XM_011541228.1:c.496A>T	XP_011539530.1:p.Lys166Ter
XM_011541229.1:c.322A>T	XP_011539531.1:p.Lys108Ter
XM_011541230.1:c.100A>T	XP_011539532.1:p.Lys34Ter
XM_011541231.1:c.91A>T	XP_011539533.1:p.Lys31Ter
XM_011541226.2:c.607A>T	XP_011539528.1:p.Lys203Ter
XM_011541227.2:c.529A>T	XP_011539529.1:p.Lys177Ter
XM_011541228.2:c.496A>T	XP_011539530.1:p.Lys166Ter
XM_011541231.2:c.91A>T	XP_011539533.1:p.Lys31Ter
XM_024446338.1:c.496A>T	XP_024302106.1:p.Lys166Ter
NM_006623.4:c.385A>T MANE Select	NP_006614.2:p.Lys129Ter