Canonical Allele Identifier: CA341851245

Gene: PHGDH

Linked Data

• dbSNP Id: rs1432614987
• gnomAD v2: 1-120279801-C-T
• gnomAD v4: 1-119737178-C-T
• COSMIC: COSM894689
• MyVariant Identifiers: chr1:g.120279801C>T (hg19) ; chr1:g.119737178C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119737178C>T , CM000663.2:g.119737178C>T	GRCh38
NC_000001.10:g.120279801C>T , CM000663.1:g.120279801C>T	GRCh37
NC_000001.9:g.120081324C>T	NCBI36
NG_009188.1:g.30383C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.857C>T	ENSP00000358417.5:p.Ala286Val
ENST00000641023.2:c.857C>T MANE Select	ENSP00000493175.1:p.Ala286Val
ENST00000641074.1:c.857C>T	ENSP00000493446.1:p.Ala286Val
ENST00000641115.1:c.857C>T	ENSP00000493264.1:p.Ala286Val
ENST00000641213.1:c.*510C>T	ENSP00000493079.1:n.*510C>T
ENST00000641314.1:n.842C>T
ENST00000641375.1:c.*693C>T	ENSP00000493089.1:n.*693C>T
ENST00000641597.1:c.857C>T	ENSP00000493382.1:p.Ala286Val
ENST00000641756.1:c.*601C>T	ENSP00000493147.1:n.*601C>T
ENST00000641811.1:c.613C>T
ENST00000641891.1:c.*683C>T	ENSP00000493288.1:n.*683C>T
ENST00000641927.1:n.797C>T
ENST00000641947.1:c.857C>T	ENSP00000492994.1:p.Ala286Val
ENST00000642021.1:n.979C>T
ENST00000369407.3:c.755C>T	ENSP00000358415.3:p.Ala252Val
ENST00000369409.8:c.857C>T	ENSP00000358417.4:p.Ala286Val
NM_006623.3:c.857C>T	NP_006614.2:p.Ala286Val
XM_011541226.1:c.1079C>T	XP_011539528.1:p.Ala360Val
XM_011541227.1:c.1001C>T	XP_011539529.1:p.Ala334Val
XM_011541228.1:c.968C>T	XP_011539530.1:p.Ala323Val
XM_011541229.1:c.794C>T	XP_011539531.1:p.Ala265Val
XM_011541230.1:c.572C>T	XP_011539532.1:p.Ala191Val
XM_011541231.1:c.563C>T	XP_011539533.1:p.Ala188Val
XM_011541226.2:c.1079C>T	XP_011539528.1:p.Ala360Val
XM_011541227.2:c.1001C>T	XP_011539529.1:p.Ala334Val
XM_011541228.2:c.968C>T	XP_011539530.1:p.Ala323Val
XM_011541231.2:c.563C>T	XP_011539533.1:p.Ala188Val
XM_024446338.1:c.968C>T	XP_024302106.1:p.Ala323Val
NM_006623.4:c.857C>T MANE Select	NP_006614.2:p.Ala286Val