Canonical Allele Identifier: CA341847816

Gene: PHGDH

Linked Data

• gnomAD v4: 1-119727083-T-A
• MyVariant Identifiers: chr1:g.120269706T>A (hg19) ; chr1:g.119727083T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119727083T>A , CM000663.2:g.119727083T>A	GRCh38
NC_000001.10:g.120269706T>A , CM000663.1:g.120269706T>A	GRCh37
NC_000001.9:g.120071229T>A	NCBI36
NG_009188.1:g.20288T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.491T>A	ENSP00000358417.5:p.Met164Lys
ENST00000462324.2:n.574T>A
ENST00000641023.2:c.491T>A MANE Select	ENSP00000493175.1:p.Met164Lys
ENST00000641074.1:c.491T>A	ENSP00000493446.1:p.Met164Lys
ENST00000641115.1:c.491T>A	ENSP00000493264.1:p.Met164Lys
ENST00000641213.1:c.*144T>A	ENSP00000493079.1:n.*144T>A
ENST00000641247.1:c.*210T>A	ENSP00000492955.1:n.*210T>A
ENST00000641272.1:c.425T>A	ENSP00000493432.1:p.Met142Lys
ENST00000641314.1:n.476T>A
ENST00000641371.1:c.405T>A	ENSP00000493305.1:p.Asp135Glu
ENST00000641375.1:c.*327T>A	ENSP00000493089.1:n.*327T>A
ENST00000641455.1:n.36T>A
ENST00000641491.1:c.*144T>A	ENSP00000493187.1:n.*144T>A
ENST00000641570.1:c.*210T>A	ENSP00000493213.1:n.*210T>A
ENST00000641573.1:n.579T>A
ENST00000641587.1:c.*202T>A	ENSP00000493453.1:n.*202T>A
ENST00000641597.1:c.491T>A	ENSP00000493382.1:p.Met164Lys
ENST00000641756.1:c.*235T>A	ENSP00000493147.1:n.*235T>A
ENST00000641811.1:c.247T>A
ENST00000641847.1:n.350T>A
ENST00000641891.1:c.*317T>A	ENSP00000493288.1:n.*317T>A
ENST00000641927.1:n.431T>A
ENST00000641947.1:c.491T>A	ENSP00000492994.1:p.Met164Lys
ENST00000642021.1:n.613T>A
ENST00000369407.3:c.389T>A	ENSP00000358415.3:p.Met130Lys
ENST00000369409.8:c.491T>A	ENSP00000358417.4:p.Met164Lys
ENST00000462324.1:n.759T>A
ENST00000493622.5:n.680T>A
NM_006623.3:c.491T>A	NP_006614.2:p.Met164Lys
XM_011541226.1:c.713T>A	XP_011539528.1:p.Met238Lys
XM_011541227.1:c.635T>A	XP_011539529.1:p.Met212Lys
XM_011541228.1:c.602T>A	XP_011539530.1:p.Met201Lys
XM_011541229.1:c.428T>A	XP_011539531.1:p.Met143Lys
XM_011541230.1:c.206T>A	XP_011539532.1:p.Met69Lys
XM_011541231.1:c.197T>A	XP_011539533.1:p.Met66Lys
XM_011541226.2:c.713T>A	XP_011539528.1:p.Met238Lys
XM_011541227.2:c.635T>A	XP_011539529.1:p.Met212Lys
XM_011541228.2:c.602T>A	XP_011539530.1:p.Met201Lys
XM_011541231.2:c.197T>A	XP_011539533.1:p.Met66Lys
XM_024446338.1:c.602T>A	XP_024302106.1:p.Met201Lys
NM_006623.4:c.491T>A MANE Select	NP_006614.2:p.Met164Lys