Canonical Allele Identifier: CA10941793

Gene: PHGDH

Linked Data

• ClinVar Variation Id: 1300642
• ClinVar RCV Id: RCV001732548
• dbSNP Id: rs77600587
• gnomAD v2: 1-120279947-G-T
• gnomAD v3: 1-119737324-G-T
• gnomAD v4: 1-119737324-G-T
• MyVariant Identifiers: chr1:g.120279947G>T (hg19) ; chr1:g.119737324G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119737324G>T , CM000663.2:g.119737324G>T	GRCh38
NC_000001.10:g.120279947G>T , CM000663.1:g.120279947G>T	GRCh37
NC_000001.9:g.120081470G>T	NCBI36
NG_009188.1:g.30529G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.945+58G>T	ENSP00000358417.5:n.945+58G>T
ENST00000641023.2:c.945+58G>T MANE Select	ENSP00000493175.1:n.945+58G>T
ENST00000641074.1:c.945+58G>T	ENSP00000493446.1:n.945+58G>T
ENST00000641115.1:c.945+58G>T	ENSP00000493264.1:n.945+58G>T
ENST00000641213.1:c.*598+58G>T	ENSP00000493079.1:n.*598+58G>T
ENST00000641314.1:n.930+58G>T
ENST00000641375.1:c.*781+58G>T	ENSP00000493089.1:n.*781+58G>T
ENST00000641597.1:c.945+58G>T	ENSP00000493382.1:n.945+58G>T
ENST00000641756.1:c.*689+58G>T	ENSP00000493147.1:n.*689+58G>T
ENST00000641811.1:c.701+58G>T
ENST00000641891.1:c.*771+58G>T	ENSP00000493288.1:n.*771+58G>T
ENST00000641927.1:n.885+58G>T
ENST00000641939.1:n.48+58G>T
ENST00000641947.1:c.945+58G>T	ENSP00000492994.1:n.945+58G>T
ENST00000642021.1:n.1067+58G>T
ENST00000369407.3:c.843+58G>T	ENSP00000358415.3:n.843+58G>T
ENST00000369409.8:c.945+58G>T	ENSP00000358417.4:n.945+58G>T
NM_006623.3:c.945+58G>T	NP_006614.2:n.945+58G>T
XM_011541226.1:c.1167+58G>T	XP_011539528.1:n.1167+58G>T
XM_011541227.1:c.1089+58G>T	XP_011539529.1:n.1089+58G>T
XM_011541228.1:c.1056+58G>T	XP_011539530.1:n.1056+58G>T
XM_011541229.1:c.882+58G>T	XP_011539531.1:n.882+58G>T
XM_011541230.1:c.660+58G>T	XP_011539532.1:n.660+58G>T
XM_011541231.1:c.651+58G>T	XP_011539533.1:n.651+58G>T
XM_011541226.2:c.1167+58G>T	XP_011539528.1:n.1167+58G>T
XM_011541227.2:c.1089+58G>T	XP_011539529.1:n.1089+58G>T
XM_011541228.2:c.1056+58G>T	XP_011539530.1:n.1056+58G>T
XM_011541231.2:c.651+58G>T	XP_011539533.1:n.651+58G>T
XM_024446338.1:c.1056+58G>T	XP_024302106.1:n.1056+58G>T
NM_006623.4:c.945+58G>T MANE Select	NP_006614.2:n.945+58G>T