Canonical Allele Identifier: CA341851128

Gene: PHGDH

Linked Data

• MyVariant Identifiers: chr1:g.120279765A>C (hg19) ; chr1:g.119737142A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119737142A>C , CM000663.2:g.119737142A>C	GRCh38
NC_000001.10:g.120279765A>C , CM000663.1:g.120279765A>C	GRCh37
NC_000001.9:g.120081288A>C	NCBI36
NG_009188.1:g.30347A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.821A>C	ENSP00000358417.5:p.Asp274Ala
ENST00000469443.2:n.641A>C
ENST00000641023.2:c.821A>C MANE Select	ENSP00000493175.1:p.Asp274Ala
ENST00000641074.1:c.821A>C	ENSP00000493446.1:p.Asp274Ala
ENST00000641115.1:c.821A>C	ENSP00000493264.1:p.Asp274Ala
ENST00000641213.1:c.*474A>C	ENSP00000493079.1:n.*474A>C
ENST00000641314.1:n.806A>C
ENST00000641375.1:c.*657A>C	ENSP00000493089.1:n.*657A>C
ENST00000641597.1:c.821A>C	ENSP00000493382.1:p.Asp274Ala
ENST00000641756.1:c.*565A>C	ENSP00000493147.1:n.*565A>C
ENST00000641811.1:c.577A>C
ENST00000641891.1:c.*647A>C	ENSP00000493288.1:n.*647A>C
ENST00000641927.1:n.761A>C
ENST00000641947.1:c.821A>C	ENSP00000492994.1:p.Asp274Ala
ENST00000642021.1:n.943A>C
ENST00000369407.3:c.719A>C	ENSP00000358415.3:p.Asp240Ala
ENST00000369409.8:c.821A>C	ENSP00000358417.4:p.Asp274Ala
NM_006623.3:c.821A>C	NP_006614.2:p.Asp274Ala
XM_011541226.1:c.1043A>C	XP_011539528.1:p.Asp348Ala
XM_011541227.1:c.965A>C	XP_011539529.1:p.Asp322Ala
XM_011541228.1:c.932A>C	XP_011539530.1:p.Asp311Ala
XM_011541229.1:c.758A>C	XP_011539531.1:p.Asp253Ala
XM_011541230.1:c.536A>C	XP_011539532.1:p.Asp179Ala
XM_011541231.1:c.527A>C	XP_011539533.1:p.Asp176Ala
XM_011541226.2:c.1043A>C	XP_011539528.1:p.Asp348Ala
XM_011541227.2:c.965A>C	XP_011539529.1:p.Asp322Ala
XM_011541228.2:c.932A>C	XP_011539530.1:p.Asp311Ala
XM_011541231.2:c.527A>C	XP_011539533.1:p.Asp176Ala
XM_024446338.1:c.932A>C	XP_024302106.1:p.Asp311Ala
NM_006623.4:c.821A>C MANE Select	NP_006614.2:p.Asp274Ala