Canonical Allele Identifier: CA341847611

Gene: PHGDH

Linked Data

• MyVariant Identifiers: chr1:g.120269513A>C (hg19) ; chr1:g.119726890A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119726890A>C , CM000663.2:g.119726890A>C	GRCh38
NC_000001.10:g.120269513A>C , CM000663.1:g.120269513A>C	GRCh37
NC_000001.9:g.120071036A>C	NCBI36
NG_009188.1:g.20095A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.396A>C	ENSP00000358417.5:p.Lys132Asn
ENST00000462324.2:n.479A>C
ENST00000641023.2:c.396A>C MANE Select	ENSP00000493175.1:p.Lys132Asn
ENST00000641074.1:c.396A>C	ENSP00000493446.1:p.Lys132Asn
ENST00000641115.1:c.396A>C	ENSP00000493264.1:p.Lys132Asn
ENST00000641213.1:c.*49A>C	ENSP00000493079.1:n.*49A>C
ENST00000641247.1:c.*115A>C	ENSP00000492955.1:n.*115A>C
ENST00000641272.1:c.330A>C	ENSP00000493432.1:p.Lys110Asn
ENST00000641314.1:n.381A>C
ENST00000641371.1:c.310A>C	ENSP00000493305.1:p.Met104Leu
ENST00000641375.1:c.*232A>C	ENSP00000493089.1:n.*232A>C
ENST00000641491.1:c.*49A>C	ENSP00000493187.1:n.*49A>C
ENST00000641513.1:c.*140A>C	ENSP00000493398.1:n.*140A>C
ENST00000641570.1:c.*115A>C	ENSP00000493213.1:n.*115A>C
ENST00000641573.1:n.484A>C
ENST00000641587.1:c.*107A>C	ENSP00000493453.1:n.*107A>C
ENST00000641597.1:c.396A>C	ENSP00000493382.1:p.Lys132Asn
ENST00000641711.1:n.620A>C
ENST00000641756.1:c.*140A>C	ENSP00000493147.1:n.*140A>C
ENST00000641811.1:c.152A>C
ENST00000641847.1:n.255A>C
ENST00000641891.1:c.*222A>C	ENSP00000493288.1:n.*222A>C
ENST00000641927.1:n.336A>C
ENST00000641947.1:c.396A>C	ENSP00000492994.1:p.Lys132Asn
ENST00000642021.1:n.518A>C
ENST00000642041.1:c.*435A>C	ENSP00000493415.1:n.*435A>C
ENST00000369407.3:c.294A>C	ENSP00000358415.3:p.Lys98Asn
ENST00000369409.8:c.396A>C	ENSP00000358417.4:p.Lys132Asn
ENST00000462324.1:n.664A>C
ENST00000493622.5:n.585A>C
NM_006623.3:c.396A>C	NP_006614.2:p.Lys132Asn
XM_011541226.1:c.618A>C	XP_011539528.1:p.Lys206Asn
XM_011541227.1:c.540A>C	XP_011539529.1:p.Lys180Asn
XM_011541228.1:c.507A>C	XP_011539530.1:p.Lys169Asn
XM_011541229.1:c.333A>C	XP_011539531.1:p.Lys111Asn
XM_011541230.1:c.111A>C	XP_011539532.1:p.Lys37Asn
XM_011541231.1:c.102A>C	XP_011539533.1:p.Lys34Asn
XM_011541226.2:c.618A>C	XP_011539528.1:p.Lys206Asn
XM_011541227.2:c.540A>C	XP_011539529.1:p.Lys180Asn
XM_011541228.2:c.507A>C	XP_011539530.1:p.Lys169Asn
XM_011541231.2:c.102A>C	XP_011539533.1:p.Lys34Asn
XM_024446338.1:c.507A>C	XP_024302106.1:p.Lys169Asn
NM_006623.4:c.396A>C MANE Select	NP_006614.2:p.Lys132Asn