Canonical Allele Identifier: CA420014139

Gene: PHGDH

Linked Data

• MyVariant Identifiers: chr1:g.120279856G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119737233G>C , CM000663.2:g.119737233G>C	GRCh38
NC_000001.10:g.120279856G>C , CM000663.1:g.120279856G>C	GRCh37
NC_000001.9:g.120081379G>C	NCBI36
NG_009188.1:g.30438G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.912G>C	ENSP00000358417.5:p.Val304=
ENST00000641023.2:c.912G>C MANE Select	ENSP00000493175.1:p.Val304=
ENST00000641074.1:c.912G>C	ENSP00000493446.1:p.Val304=
ENST00000641115.1:c.912G>C	ENSP00000493264.1:p.Val304=
ENST00000641213.1:c.*565G>C	ENSP00000493079.1:n.*565G>C
ENST00000641314.1:n.897G>C
ENST00000641375.1:c.*748G>C	ENSP00000493089.1:n.*748G>C
ENST00000641597.1:c.912G>C	ENSP00000493382.1:p.Val304=
ENST00000641756.1:c.*656G>C	ENSP00000493147.1:n.*656G>C
ENST00000641811.1:c.668G>C
ENST00000641891.1:c.*738G>C	ENSP00000493288.1:n.*738G>C
ENST00000641927.1:n.852G>C
ENST00000641939.1:n.15G>C
ENST00000641947.1:c.912G>C	ENSP00000492994.1:p.Val304=
ENST00000642021.1:n.1034G>C
ENST00000369407.3:c.810G>C	ENSP00000358415.3:p.Val270=
ENST00000369409.8:c.912G>C	ENSP00000358417.4:p.Val304=
NM_006623.3:c.912G>C	NP_006614.2:p.Val304=
XM_011541226.1:c.1134G>C	XP_011539528.1:p.Val378=
XM_011541227.1:c.1056G>C	XP_011539529.1:p.Val352=
XM_011541228.1:c.1023G>C	XP_011539530.1:p.Val341=
XM_011541229.1:c.849G>C	XP_011539531.1:p.Val283=
XM_011541230.1:c.627G>C	XP_011539532.1:p.Val209=
XM_011541231.1:c.618G>C	XP_011539533.1:p.Val206=
XM_011541226.2:c.1134G>C	XP_011539528.1:p.Val378=
XM_011541227.2:c.1056G>C	XP_011539529.1:p.Val352=
XM_011541228.2:c.1023G>C	XP_011539530.1:p.Val341=
XM_011541231.2:c.618G>C	XP_011539533.1:p.Val206=
XM_024446338.1:c.1023G>C	XP_024302106.1:p.Val341=
NM_006623.4:c.912G>C MANE Select	NP_006614.2:p.Val304=