Canonical Allele Identifier: CA10737897

Gene: PHGDH

Linked Data

• dbSNP Id: rs478093
• gnomAD v2: 1-120255126-A-G
• gnomAD v3: 1-119712503-A-G
• gnomAD v4: 1-119712503-A-G
• MyVariant Identifiers: chr1:g.120255126A>G (hg19) ; chr1:g.119712503A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119712503A>G , CM000663.2:g.119712503A>G	GRCh38
NC_000001.10:g.120255126A>G , CM000663.1:g.120255126A>G	GRCh37
NC_000001.9:g.120056649A>G	NCBI36
NG_009188.1:g.5708A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000369409.9:c.138+343A>G	ENSP00000358417.5:n.138+343A>G
ENST00000462324.2:n.221+343A>G
ENST00000496756.2:n.274+343A>G
ENST00000641023.2:c.138+343A>G MANE Select	ENSP00000493175.1:n.138+343A>G
ENST00000641074.1:c.138+343A>G	ENSP00000493446.1:n.138+343A>G
ENST00000641115.1:c.138+343A>G	ENSP00000493264.1:n.138+343A>G
ENST00000641213.1:c.138+343A>G	ENSP00000493079.1:n.138+343A>G
ENST00000641247.1:c.138+343A>G	ENSP00000492955.1:n.138+343A>G
ENST00000641272.1:c.138+343A>G	ENSP00000493432.1:n.138+343A>G
ENST00000641371.1:c.138+343A>G	ENSP00000493305.1:n.138+343A>G
ENST00000641375.1:c.138+343A>G	ENSP00000493089.1:n.138+343A>G
ENST00000641491.1:c.138+343A>G	ENSP00000493187.1:n.138+343A>G
ENST00000641513.1:c.138+343A>G	ENSP00000493398.1:n.138+343A>G
ENST00000641570.1:c.138+343A>G	ENSP00000493213.1:n.138+343A>G
ENST00000641573.1:n.226+343A>G
ENST00000641587.1:c.138+343A>G	ENSP00000493453.1:n.138+343A>G
ENST00000641597.1:c.138+343A>G	ENSP00000493382.1:n.138+343A>G
ENST00000641720.1:c.138+343A>G	ENSP00000492948.1:n.138+343A>G
ENST00000641756.1:c.-394A>G	ENSP00000493147.1:n.-394A>G
ENST00000641891.1:c.138+343A>G	ENSP00000493288.1:n.138+343A>G
ENST00000641947.1:c.138+343A>G	ENSP00000492994.1:n.138+343A>G
ENST00000642021.1:n.260+343A>G
ENST00000642041.1:c.138+343A>G	ENSP00000493415.1:n.138+343A>G
ENST00000369409.8:c.138+343A>G	ENSP00000358417.4:n.138+343A>G
ENST00000462324.1:n.255+343A>G
ENST00000493622.5:n.328-8667A>G
ENST00000496756.1:n.277+343A>G
NM_006623.3:c.138+343A>G	NP_006614.2:n.138+343A>G
XM_011541226.1:c.138+343A>G	XP_011539528.1:n.138+343A>G
XM_011541231.1:c.-399+343A>G	XP_011539533.1:n.-399+343A>G
XM_011541226.2:c.138+343A>G	XP_011539528.1:n.138+343A>G
XM_011541231.2:c.-399+343A>G	XP_011539533.1:n.-399+343A>G
NM_006623.4:c.138+343A>G MANE Select	NP_006614.2:n.138+343A>G