Canonical Allele Identifier: CA1192434174
Gene: PHGDH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119737179_119737180delinsCA , CM000663.2:g.119737179_119737180delinsCA GRCh38
NC_000001.10:g.120279802_120279803delinsCA , CM000663.1:g.120279802_120279803delinsCA GRCh37
NC_000001.9:g.120081325_120081326delinsCA NCBI36
NG_009188.1:g.30384_30385delinsCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000369409.9:c.858_859delinsCA ENSP00000358417.5:p.Ala286=
ENST00000641023.2:c.858_859delinsCA MANE Select ENSP00000493175.1:p.Ala286=
ENST00000641074.1:c.858_859delinsCA ENSP00000493446.1:p.Ala286=
ENST00000641115.1:c.858_859delinsCA ENSP00000493264.1:p.Ala286=
ENST00000641213.1:c.*511_*512delinsCA ENSP00000493079.1:n.*511_*512delinsCA
ENST00000641314.1:n.843_844delinsCA
ENST00000641375.1:c.*694_*695delinsCA ENSP00000493089.1:n.*694_*695delinsCA
ENST00000641597.1:c.858_859delinsCA ENSP00000493382.1:p.Ala286=
ENST00000641756.1:c.*602_*603delinsCA ENSP00000493147.1:n.*602_*603delinsCA
ENST00000641811.1:c.614_615delinsCA
ENST00000641891.1:c.*684_*685delinsCA ENSP00000493288.1:n.*684_*685delinsCA
ENST00000641927.1:n.798_799delinsCA
ENST00000641947.1:c.858_859delinsCA ENSP00000492994.1:p.Ala286=
ENST00000642021.1:n.980_981delinsCA
ENST00000369407.3:c.756_757delinsCA ENSP00000358415.3:p.Ala252=
ENST00000369409.8:c.858_859delinsCA ENSP00000358417.4:p.Ala286=
NM_006623.3:c.858_859delinsCA NP_006614.2:p.Ala286=
XM_011541226.1:c.1080_1081delinsCA XP_011539528.1:p.Ala360=
XM_011541227.1:c.1002_1003delinsCA XP_011539529.1:p.Ala334=
XM_011541228.1:c.969_970delinsCA XP_011539530.1:p.Ala323=
XM_011541229.1:c.795_796delinsCA XP_011539531.1:p.Ala265=
XM_011541230.1:c.573_574delinsCA XP_011539532.1:p.Ala191=
XM_011541231.1:c.564_565delinsCA XP_011539533.1:p.Ala188=
XM_011541226.2:c.1080_1081delinsCA XP_011539528.1:p.Ala360=
XM_011541227.2:c.1002_1003delinsCA XP_011539529.1:p.Ala334=
XM_011541228.2:c.969_970delinsCA XP_011539530.1:p.Ala323=
XM_011541231.2:c.564_565delinsCA XP_011539533.1:p.Ala188=
XM_024446338.1:c.969_970delinsCA XP_024302106.1:p.Ala323=
NM_006623.4:c.858_859delinsCA MANE Select NP_006614.2:p.Ala286=