Canonical Allele Identifier: CA1037290

Gene: PHGDH

Linked Data

• dbSNP Id: rs773652124
• ExAC: 1:120279858 A / C
• gnomAD v2: 1-120279858-A-C
• gnomAD v4: 1-119737235-A-C
• MyVariant Identifiers: chr1:g.120279858A>C (hg19) ; chr1:g.119737235A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119737235A>C , CM000663.2:g.119737235A>C	GRCh38
NC_000001.10:g.120279858A>C , CM000663.1:g.120279858A>C	GRCh37
NC_000001.9:g.120081381A>C	NCBI36
NG_009188.1:g.30440A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.914A>C	ENSP00000358417.5:p.Asp305Ala
ENST00000641023.2:c.914A>C MANE Select	ENSP00000493175.1:p.Asp305Ala
ENST00000641074.1:c.914A>C	ENSP00000493446.1:p.Asp305Ala
ENST00000641115.1:c.914A>C	ENSP00000493264.1:p.Asp305Ala
ENST00000641213.1:c.*567A>C	ENSP00000493079.1:n.*567A>C
ENST00000641314.1:n.899A>C
ENST00000641375.1:c.*750A>C	ENSP00000493089.1:n.*750A>C
ENST00000641597.1:c.914A>C	ENSP00000493382.1:p.Asp305Ala
ENST00000641756.1:c.*658A>C	ENSP00000493147.1:n.*658A>C
ENST00000641811.1:c.670A>C
ENST00000641891.1:c.*740A>C	ENSP00000493288.1:n.*740A>C
ENST00000641927.1:n.854A>C
ENST00000641939.1:n.17A>C
ENST00000641947.1:c.914A>C	ENSP00000492994.1:p.Asp305Ala
ENST00000642021.1:n.1036A>C
ENST00000369407.3:c.812A>C	ENSP00000358415.3:p.Asp271Ala
ENST00000369409.8:c.914A>C	ENSP00000358417.4:p.Asp305Ala
NM_006623.3:c.914A>C	NP_006614.2:p.Asp305Ala
XM_011541226.1:c.1136A>C	XP_011539528.1:p.Asp379Ala
XM_011541227.1:c.1058A>C	XP_011539529.1:p.Asp353Ala
XM_011541228.1:c.1025A>C	XP_011539530.1:p.Asp342Ala
XM_011541229.1:c.851A>C	XP_011539531.1:p.Asp284Ala
XM_011541230.1:c.629A>C	XP_011539532.1:p.Asp210Ala
XM_011541231.1:c.620A>C	XP_011539533.1:p.Asp207Ala
XM_011541226.2:c.1136A>C	XP_011539528.1:p.Asp379Ala
XM_011541227.2:c.1058A>C	XP_011539529.1:p.Asp353Ala
XM_011541228.2:c.1025A>C	XP_011539530.1:p.Asp342Ala
XM_011541231.2:c.620A>C	XP_011539533.1:p.Asp207Ala
XM_024446338.1:c.1025A>C	XP_024302106.1:p.Asp342Ala
NM_006623.4:c.914A>C MANE Select	NP_006614.2:p.Asp305Ala