Canonical Allele Identifier: CA1037054

Gene: PHGDH

Linked Data

• ClinVar Variation Id: 3021890
• ClinVar RCV Id: RCV003880473
• dbSNP Id: rs776444178
• ExAC: 1:120269456 C / T
• gnomAD v2: 1-120269456-C-T
• gnomAD v3: 1-119726833-C-T
• gnomAD v4: 1-119726833-C-T
• MyVariant Identifiers: chr1:g.120269456C>T (hg19) ; chr1:g.119726833C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119726833C>T , CM000663.2:g.119726833C>T	GRCh38
NC_000001.10:g.120269456C>T , CM000663.1:g.120269456C>T	GRCh37
NC_000001.9:g.120070979C>T	NCBI36
NG_009188.1:g.20038C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.357-18C>T	ENSP00000358417.5:n.357-18C>T
ENST00000462324.2:n.440-18C>T
ENST00000641023.2:c.357-18C>T MANE Select	ENSP00000493175.1:n.357-18C>T
ENST00000641074.1:c.357-18C>T	ENSP00000493446.1:n.357-18C>T
ENST00000641115.1:c.357-18C>T	ENSP00000493264.1:n.357-18C>T
ENST00000641213.1:c.*10-18C>T	ENSP00000493079.1:n.*10-18C>T
ENST00000641247.1:c.*76-18C>T	ENSP00000492955.1:n.*76-18C>T
ENST00000641272.1:c.291-18C>T	ENSP00000493432.1:n.291-18C>T
ENST00000641314.1:n.342-18C>T
ENST00000641371.1:c.271-18C>T	ENSP00000493305.1:n.271-18C>T
ENST00000641375.1:c.*193-18C>T	ENSP00000493089.1:n.*193-18C>T
ENST00000641491.1:c.*10-18C>T	ENSP00000493187.1:n.*10-18C>T
ENST00000641513.1:c.*101-18C>T	ENSP00000493398.1:n.*101-18C>T
ENST00000641570.1:c.*76-18C>T	ENSP00000493213.1:n.*76-18C>T
ENST00000641573.1:n.445-18C>T
ENST00000641587.1:c.*68-18C>T	ENSP00000493453.1:n.*68-18C>T
ENST00000641597.1:c.357-18C>T	ENSP00000493382.1:n.357-18C>T
ENST00000641711.1:n.581-18C>T
ENST00000641756.1:c.*101-18C>T	ENSP00000493147.1:n.*101-18C>T
ENST00000641811.1:c.113-18C>T
ENST00000641847.1:n.198C>T
ENST00000641891.1:c.*183-18C>T	ENSP00000493288.1:n.*183-18C>T
ENST00000641927.1:n.297-18C>T
ENST00000641947.1:c.357-18C>T	ENSP00000492994.1:n.357-18C>T
ENST00000642021.1:n.479-18C>T
ENST00000642041.1:c.*396-18C>T	ENSP00000493415.1:n.*396-18C>T
ENST00000369407.3:c.255-18C>T	ENSP00000358415.3:n.255-18C>T
ENST00000369409.8:c.357-18C>T	ENSP00000358417.4:n.357-18C>T
ENST00000462324.1:n.625-18C>T
ENST00000493622.5:n.546-18C>T
NM_006623.3:c.357-18C>T	NP_006614.2:n.357-18C>T
XM_011541226.1:c.579-18C>T	XP_011539528.1:n.579-18C>T
XM_011541227.1:c.501-18C>T	XP_011539529.1:n.501-18C>T
XM_011541228.1:c.468-18C>T	XP_011539530.1:n.468-18C>T
XM_011541229.1:c.294-18C>T	XP_011539531.1:n.294-18C>T
XM_011541230.1:c.72-18C>T	XP_011539532.1:n.72-18C>T
XM_011541231.1:c.63-18C>T	XP_011539533.1:n.63-18C>T
XM_011541226.2:c.579-18C>T	XP_011539528.1:n.579-18C>T
XM_011541227.2:c.501-18C>T	XP_011539529.1:n.501-18C>T
XM_011541228.2:c.468-18C>T	XP_011539530.1:n.468-18C>T
XM_011541231.2:c.63-18C>T	XP_011539533.1:n.63-18C>T
XM_024446338.1:c.468-18C>T	XP_024302106.1:n.468-18C>T
NM_006623.4:c.357-18C>T MANE Select	NP_006614.2:n.357-18C>T