Canonical Allele Identifier: CA420013833

Gene: PHGDH

Linked Data

• MyVariant Identifiers: chr1:g.120279775T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119737152T>C , CM000663.2:g.119737152T>C	GRCh38
NC_000001.10:g.120279775T>C , CM000663.1:g.120279775T>C	GRCh37
NC_000001.9:g.120081298T>C	NCBI36
NG_009188.1:g.30357T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.831T>C	ENSP00000358417.5:p.Asn277=
ENST00000469443.2:n.651T>C
ENST00000641023.2:c.831T>C MANE Select	ENSP00000493175.1:p.Asn277=
ENST00000641074.1:c.831T>C	ENSP00000493446.1:p.Asn277=
ENST00000641115.1:c.831T>C	ENSP00000493264.1:p.Asn277=
ENST00000641213.1:c.*484T>C	ENSP00000493079.1:n.*484T>C
ENST00000641314.1:n.816T>C
ENST00000641375.1:c.*667T>C	ENSP00000493089.1:n.*667T>C
ENST00000641597.1:c.831T>C	ENSP00000493382.1:p.Asn277=
ENST00000641756.1:c.*575T>C	ENSP00000493147.1:n.*575T>C
ENST00000641811.1:c.587T>C
ENST00000641891.1:c.*657T>C	ENSP00000493288.1:n.*657T>C
ENST00000641927.1:n.771T>C
ENST00000641947.1:c.831T>C	ENSP00000492994.1:p.Asn277=
ENST00000642021.1:n.953T>C
ENST00000369407.3:c.729T>C	ENSP00000358415.3:p.Asn243=
ENST00000369409.8:c.831T>C	ENSP00000358417.4:p.Asn277=
NM_006623.3:c.831T>C	NP_006614.2:p.Asn277=
XM_011541226.1:c.1053T>C	XP_011539528.1:p.Asn351=
XM_011541227.1:c.975T>C	XP_011539529.1:p.Asn325=
XM_011541228.1:c.942T>C	XP_011539530.1:p.Asn314=
XM_011541229.1:c.768T>C	XP_011539531.1:p.Asn256=
XM_011541230.1:c.546T>C	XP_011539532.1:p.Asn182=
XM_011541231.1:c.537T>C	XP_011539533.1:p.Asn179=
XM_011541226.2:c.1053T>C	XP_011539528.1:p.Asn351=
XM_011541227.2:c.975T>C	XP_011539529.1:p.Asn325=
XM_011541228.2:c.942T>C	XP_011539530.1:p.Asn314=
XM_011541231.2:c.537T>C	XP_011539533.1:p.Asn179=
XM_024446338.1:c.942T>C	XP_024302106.1:p.Asn314=
NM_006623.4:c.831T>C MANE Select	NP_006614.2:p.Asn277=