Canonical Allele Identifier: CA420013974

Gene: PHGDH

Linked Data

• gnomAD v4: 1-119737179-C-A
• MyVariant Identifiers: chr1:g.120279802C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119737179C>A , CM000663.2:g.119737179C>A	GRCh38
NC_000001.10:g.120279802C>A , CM000663.1:g.120279802C>A	GRCh37
NC_000001.9:g.120081325C>A	NCBI36
NG_009188.1:g.30384C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.858C>A	ENSP00000358417.5:p.Ala286=
ENST00000641023.2:c.858C>A MANE Select	ENSP00000493175.1:p.Ala286=
ENST00000641074.1:c.858C>A	ENSP00000493446.1:p.Ala286=
ENST00000641115.1:c.858C>A	ENSP00000493264.1:p.Ala286=
ENST00000641213.1:c.*511C>A	ENSP00000493079.1:n.*511C>A
ENST00000641314.1:n.843C>A
ENST00000641375.1:c.*694C>A	ENSP00000493089.1:n.*694C>A
ENST00000641597.1:c.858C>A	ENSP00000493382.1:p.Ala286=
ENST00000641756.1:c.*602C>A	ENSP00000493147.1:n.*602C>A
ENST00000641811.1:c.614C>A
ENST00000641891.1:c.*684C>A	ENSP00000493288.1:n.*684C>A
ENST00000641927.1:n.798C>A
ENST00000641947.1:c.858C>A	ENSP00000492994.1:p.Ala286=
ENST00000642021.1:n.980C>A
ENST00000369407.3:c.756C>A	ENSP00000358415.3:p.Ala252=
ENST00000369409.8:c.858C>A	ENSP00000358417.4:p.Ala286=
NM_006623.3:c.858C>A	NP_006614.2:p.Ala286=
XM_011541226.1:c.1080C>A	XP_011539528.1:p.Ala360=
XM_011541227.1:c.1002C>A	XP_011539529.1:p.Ala334=
XM_011541228.1:c.969C>A	XP_011539530.1:p.Ala323=
XM_011541229.1:c.795C>A	XP_011539531.1:p.Ala265=
XM_011541230.1:c.573C>A	XP_011539532.1:p.Ala191=
XM_011541231.1:c.564C>A	XP_011539533.1:p.Ala188=
XM_011541226.2:c.1080C>A	XP_011539528.1:p.Ala360=
XM_011541227.2:c.1002C>A	XP_011539529.1:p.Ala334=
XM_011541228.2:c.969C>A	XP_011539530.1:p.Ala323=
XM_011541231.2:c.564C>A	XP_011539533.1:p.Ala188=
XM_024446338.1:c.969C>A	XP_024302106.1:p.Ala323=
NM_006623.4:c.858C>A MANE Select	NP_006614.2:p.Ala286=