Canonical Allele Identifier: CA30250255

Gene: PHGDH

Linked Data

• dbSNP Id: rs374473088
• gnomAD v3: 1-119727001-C-T
• gnomAD v4: 1-119727001-C-T
• MyVariant Identifiers: chr1:g.120269624C>T (hg19) ; chr1:g.119727001C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119727001C>T , CM000663.2:g.119727001C>T	GRCh38
NC_000001.10:g.120269624C>T , CM000663.1:g.120269624C>T	GRCh37
NC_000001.9:g.120071147C>T	NCBI36
NG_009188.1:g.20206C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.412-3C>T	ENSP00000358417.5:n.412-3C>T
ENST00000462324.2:n.495-3C>T
ENST00000641023.2:c.412-3C>T MANE Select	ENSP00000493175.1:n.412-3C>T
ENST00000641074.1:c.412-3C>T	ENSP00000493446.1:n.412-3C>T
ENST00000641115.1:c.412-3C>T	ENSP00000493264.1:n.412-3C>T
ENST00000641213.1:c.*65-3C>T	ENSP00000493079.1:n.*65-3C>T
ENST00000641247.1:c.*131-3C>T	ENSP00000492955.1:n.*131-3C>T
ENST00000641272.1:c.346-3C>T	ENSP00000493432.1:n.346-3C>T
ENST00000641314.1:n.397-3C>T
ENST00000641371.1:c.326-3C>T	ENSP00000493305.1:n.326-3C>T
ENST00000641375.1:c.*248-3C>T	ENSP00000493089.1:n.*248-3C>T
ENST00000641491.1:c.*65-3C>T	ENSP00000493187.1:n.*65-3C>T
ENST00000641570.1:c.*131-3C>T	ENSP00000493213.1:n.*131-3C>T
ENST00000641573.1:n.500-3C>T
ENST00000641587.1:c.*123-3C>T	ENSP00000493453.1:n.*123-3C>T
ENST00000641597.1:c.412-3C>T	ENSP00000493382.1:n.412-3C>T
ENST00000641711.1:n.636-3C>T
ENST00000641756.1:c.*156-3C>T	ENSP00000493147.1:n.*156-3C>T
ENST00000641811.1:c.168-3C>T
ENST00000641847.1:n.271-3C>T
ENST00000641891.1:c.*238-3C>T	ENSP00000493288.1:n.*238-3C>T
ENST00000641927.1:n.352-3C>T
ENST00000641947.1:c.412-3C>T	ENSP00000492994.1:n.412-3C>T
ENST00000642021.1:n.534-3C>T
ENST00000642041.1:c.*451-3C>T	ENSP00000493415.1:n.*451-3C>T
ENST00000369407.3:c.310-3C>T	ENSP00000358415.3:n.310-3C>T
ENST00000369409.8:c.412-3C>T	ENSP00000358417.4:n.412-3C>T
ENST00000462324.1:n.680-3C>T
ENST00000493622.5:n.601-3C>T
NM_006623.3:c.412-3C>T	NP_006614.2:n.412-3C>T
XM_011541226.1:c.634-3C>T	XP_011539528.1:n.634-3C>T
XM_011541227.1:c.556-3C>T	XP_011539529.1:n.556-3C>T
XM_011541228.1:c.523-3C>T	XP_011539530.1:n.523-3C>T
XM_011541229.1:c.349-3C>T	XP_011539531.1:n.349-3C>T
XM_011541230.1:c.127-3C>T	XP_011539532.1:n.127-3C>T
XM_011541231.1:c.118-3C>T	XP_011539533.1:n.118-3C>T
XM_011541226.2:c.634-3C>T	XP_011539528.1:n.634-3C>T
XM_011541227.2:c.556-3C>T	XP_011539529.1:n.556-3C>T
XM_011541228.2:c.523-3C>T	XP_011539530.1:n.523-3C>T
XM_011541231.2:c.118-3C>T	XP_011539533.1:n.118-3C>T
XM_024446338.1:c.523-3C>T	XP_024302106.1:n.523-3C>T
NM_006623.4:c.412-3C>T MANE Select	NP_006614.2:n.412-3C>T