Canonical Allele Identifier: CA1037474

Gene: PHGDH

Linked Data

• ClinVar Variation Id: 496330
• ClinVar RCV Id: RCV000590257 ; RCV000811823 ; RCV001334580 ; RCV002282250 ; RCV002532353
• dbSNP Id: rs587731325
• ExAC: 1:120286532 C / T
• gnomAD v2: 1-120286532-C-T
• gnomAD v3: 1-119743909-C-T
• gnomAD v4: 1-119743909-C-T
• MyVariant Identifiers: chr1:g.120286532C>T (hg19) ; chr1:g.119743909C>T (hg38)
• PubMed: PMID:22393170

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119743909C>T , CM000663.2:g.119743909C>T	GRCh38
NC_000001.10:g.120286532C>T , CM000663.1:g.120286532C>T	GRCh37
NC_000001.9:g.120088055C>T	NCBI36
NG_009188.1:g.37114C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.1490C>T	ENSP00000358417.5:p.Ala497Val
ENST00000641023.2:c.1471C>T MANE Select	ENSP00000493175.1:p.Arg491Trp
ENST00000641074.1:c.*50C>T	ENSP00000493446.1:n.*50C>T
ENST00000641115.1:c.1207C>T	ENSP00000493264.1:p.Arg403Trp
ENST00000641213.1:c.*1124C>T	ENSP00000493079.1:n.*1124C>T
ENST00000641314.1:n.1456C>T
ENST00000641375.1:c.*1307C>T	ENSP00000493089.1:n.*1307C>T
ENST00000641597.1:c.1471C>T	ENSP00000493382.1:p.Arg491Trp
ENST00000641756.1:c.*1215C>T	ENSP00000493147.1:n.*1215C>T
ENST00000641811.1:c.725C>T
ENST00000641891.1:c.*1297C>T	ENSP00000493288.1:n.*1297C>T
ENST00000641927.1:n.1411C>T
ENST00000641947.1:c.1450C>T	ENSP00000492994.1:p.Arg484Trp
ENST00000642021.1:n.2502C>T
ENST00000369407.3:c.1369C>T	ENSP00000358415.3:p.Arg457Trp
ENST00000369409.8:c.1471C>T	ENSP00000358417.4:p.Arg491Trp
ENST00000482968.1:n.1450C>T
NM_006623.3:c.1471C>T	NP_006614.2:p.Arg491Trp
XM_011541226.1:c.1693C>T	XP_011539528.1:p.Arg565Trp
XM_011541227.1:c.1615C>T	XP_011539529.1:p.Arg539Trp
XM_011541228.1:c.1582C>T	XP_011539530.1:p.Arg528Trp
XM_011541229.1:c.1408C>T	XP_011539531.1:p.Arg470Trp
XM_011541230.1:c.1186C>T	XP_011539532.1:p.Arg396Trp
XM_011541231.1:c.1177C>T	XP_011539533.1:p.Arg393Trp
XM_011541226.2:c.1693C>T	XP_011539528.1:p.Arg565Trp
XM_011541227.2:c.1615C>T	XP_011539529.1:p.Arg539Trp
XM_011541228.2:c.1582C>T	XP_011539530.1:p.Arg528Trp
XM_011541231.2:c.1177C>T	XP_011539533.1:p.Arg393Trp
XM_024446338.1:c.1582C>T	XP_024302106.1:p.Arg528Trp
NM_006623.4:c.1471C>T MANE Select	NP_006614.2:p.Arg491Trp