Canonical Allele Identifier: CA341851147

Gene: PHGDH

Linked Data

• MyVariant Identifiers: chr1:g.120279773A>C (hg19) ; chr1:g.119737150A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119737150A>C , CM000663.2:g.119737150A>C	GRCh38
NC_000001.10:g.120279773A>C , CM000663.1:g.120279773A>C	GRCh37
NC_000001.9:g.120081296A>C	NCBI36
NG_009188.1:g.30355A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.829A>C	ENSP00000358417.5:p.Asn277His
ENST00000469443.2:n.649A>C
ENST00000641023.2:c.829A>C MANE Select	ENSP00000493175.1:p.Asn277His
ENST00000641074.1:c.829A>C	ENSP00000493446.1:p.Asn277His
ENST00000641115.1:c.829A>C	ENSP00000493264.1:p.Asn277His
ENST00000641213.1:c.*482A>C	ENSP00000493079.1:n.*482A>C
ENST00000641314.1:n.814A>C
ENST00000641375.1:c.*665A>C	ENSP00000493089.1:n.*665A>C
ENST00000641597.1:c.829A>C	ENSP00000493382.1:p.Asn277His
ENST00000641756.1:c.*573A>C	ENSP00000493147.1:n.*573A>C
ENST00000641811.1:c.585A>C
ENST00000641891.1:c.*655A>C	ENSP00000493288.1:n.*655A>C
ENST00000641927.1:n.769A>C
ENST00000641947.1:c.829A>C	ENSP00000492994.1:p.Asn277His
ENST00000642021.1:n.951A>C
ENST00000369407.3:c.727A>C	ENSP00000358415.3:p.Asn243His
ENST00000369409.8:c.829A>C	ENSP00000358417.4:p.Asn277His
NM_006623.3:c.829A>C	NP_006614.2:p.Asn277His
XM_011541226.1:c.1051A>C	XP_011539528.1:p.Asn351His
XM_011541227.1:c.973A>C	XP_011539529.1:p.Asn325His
XM_011541228.1:c.940A>C	XP_011539530.1:p.Asn314His
XM_011541229.1:c.766A>C	XP_011539531.1:p.Asn256His
XM_011541230.1:c.544A>C	XP_011539532.1:p.Asn182His
XM_011541231.1:c.535A>C	XP_011539533.1:p.Asn179His
XM_011541226.2:c.1051A>C	XP_011539528.1:p.Asn351His
XM_011541227.2:c.973A>C	XP_011539529.1:p.Asn325His
XM_011541228.2:c.940A>C	XP_011539530.1:p.Asn314His
XM_011541231.2:c.535A>C	XP_011539533.1:p.Asn179His
XM_024446338.1:c.940A>C	XP_024302106.1:p.Asn314His
NM_006623.4:c.829A>C MANE Select	NP_006614.2:p.Asn277His