Canonical Allele Identifier: CA5790437

Gene: PIDD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.803369C>T , CM000673.2:g.803369C>T	GRCh38
NC_000011.9:g.803369C>T , CM000673.1:g.803369C>T	GRCh37
NC_000011.8:g.793369C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534649.2:c.*247G>A	ENSP00000508317.1:n.*247G>A
ENST00000347755.10:c.514G>A MANE Select	ENSP00000337797.5:p.Ala172Thr
ENST00000347755.9:c.514G>A	ENSP00000337797.5:p.Ala172Thr
ENST00000411829.6:c.514G>A	ENSP00000416801.2:p.Ala172Thr
ENST00000524486.5:c.*247G>A	ENSP00000436146.1:n.*247G>A
ENST00000525028.6:c.*247G>A	ENSP00000436342.1:n.*247G>A
ENST00000527357.5:n.1147G>A
ENST00000534525.5:n.1183G>A
NM_145886.3:c.514G>A	NP_665893.2:p.Ala172Thr
NM_145887.3:c.514G>A	NP_665894.2:p.Ala172Thr
XM_005253005.3:c.514G>A	XP_005253062.1:p.Ala172Thr
XM_005253006.3:c.514G>A	XP_005253063.1:p.Ala172Thr
XM_005253007.3:c.514G>A	XP_005253064.1:p.Ala172Thr
XM_005253008.3:c.76G>A	XP_005253065.1:p.Ala26Thr
XM_011520209.1:c.595G>A	XP_011518511.1:p.Ala199Thr
XM_011520210.1:c.514G>A	XP_011518512.1:p.Ala172Thr
XM_011520211.1:c.514G>A	XP_011518513.1:p.Ala172Thr
XM_011520212.1:c.76G>A	XP_011518514.1:p.Ala26Thr
XR_930877.1:n.589G>A
XM_005253005.5:c.514G>A	XP_005253062.1:p.Ala172Thr
XM_005253006.5:c.514G>A	XP_005253063.1:p.Ala172Thr
XM_005253007.4:c.514G>A	XP_005253064.1:p.Ala172Thr
XM_005253008.5:c.76G>A	XP_005253065.1:p.Ala26Thr
XM_011520209.3:c.595G>A	XP_011518511.1:p.Ala199Thr
XM_011520210.3:c.514G>A	XP_011518512.1:p.Ala172Thr
XM_011520211.3:c.514G>A	XP_011518513.1:p.Ala172Thr
XM_011520212.2:c.76G>A	XP_011518514.1:p.Ala26Thr
XR_001747921.1:n.589G>A
XR_001747922.2:n.1105G>A
NM_145886.4:c.514G>A MANE Select	NP_665893.2:p.Ala172Thr
NM_145887.4:c.514G>A	NP_665894.2:p.Ala172Thr