Canonical Allele Identifier: CA367595329
Community Standard Title: NM_004577.4(PSPH):c.641C>G (p.Thr214Ser)
Gene: PSPH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.56011799G>C , CM000669.2:g.56011799G>C GRCh38
NC_000007.13:g.56079492G>C , CM000669.1:g.56079492G>C GRCh37
NC_000007.12:g.56046986G>C NCBI36
NG_011473.1:g.44777C>G

Transcript Alleles

HGVS Amino-acid Change
NM_004577.4:c.641C>G MANE Select NP_004568.2:p.Thr214Ser
ENST00000275605.8:c.641C>G MANE Select ENSP00000275605.3:p.Thr214Ser
NM_001370503.1:c.641C>G NP_001357432.1:p.Thr214Ser
NM_001370504.1:c.641C>G NP_001357433.1:p.Thr214Ser
NM_001370505.1:c.641C>G NP_001357434.1:p.Thr214Ser
NM_001370506.1:c.641C>G NP_001357435.1:p.Thr214Ser
NM_001370507.1:c.641C>G NP_001357436.1:p.Thr214Ser
NM_001370508.1:c.641C>G NP_001357437.1:p.Thr214Ser
NM_001370509.1:c.641C>G NP_001357438.1:p.Thr214Ser
NM_001370510.1:c.641C>G NP_001357439.1:p.Thr214Ser
NM_001370511.1:c.641C>G NP_001357440.1:p.Thr214Ser
NM_001370512.1:c.641C>G NP_001357441.1:p.Thr214Ser
NM_001370513.1:c.641C>G NP_001357442.1:p.Thr214Ser
NM_001370514.1:c.641C>G NP_001357443.1:p.Thr214Ser
NM_001370515.1:c.641C>G NP_001357444.1:p.Thr214Ser
NM_001370516.1:c.641C>G NP_001357445.1:p.Thr214Ser
NM_001370517.1:c.641C>G NP_001357446.1:p.Thr214Ser
NM_001370518.1:c.641C>G NP_001357447.1:p.Thr214Ser
NM_001370519.1:c.641C>G NP_001357448.1:p.Thr214Ser
NM_001370520.1:c.641C>G NP_001357449.1:p.Thr214Ser
NM_001370521.1:c.641C>G NP_001357450.1:p.Thr214Ser
NM_001370522.1:c.641C>G NP_001357451.1:p.Thr214Ser
NM_004577.3:c.641C>G NP_004568.2:p.Thr214Ser
ENST00000275605.7:c.641C>G ENSP00000275605.3:p.Thr214Ser
ENST00000395471.7:c.641C>G ENSP00000378854.3:p.Thr214Ser
ENST00000437355.6:c.641C>G ENSP00000401639.2:p.Thr214Ser
ENST00000459834.5:n.431C>G
XM_005271773.1:c.641C>G XP_005271830.1:p.Thr214Ser
XM_005271773.2:c.641C>G XP_005271830.1:p.Thr214Ser
XM_005271774.1:c.641C>G XP_005271831.1:p.Thr214Ser
XM_005271774.2:c.641C>G XP_005271831.1:p.Thr214Ser
XM_005271775.1:c.641C>G XP_005271832.1:p.Thr214Ser
XM_005271775.2:c.641C>G XP_005271832.1:p.Thr214Ser
XM_005271776.1:c.641C>G XP_005271833.1:p.Thr214Ser
XM_005271776.2:c.641C>G XP_005271833.1:p.Thr214Ser
XM_006715760.1:c.641C>G XP_006715823.1:p.Thr214Ser
XM_006715760.2:c.641C>G XP_006715823.1:p.Thr214Ser
XM_006715761.1:c.506C>G XP_006715824.1:p.Thr169Ser
XM_006715761.2:c.506C>G XP_006715824.1:p.Thr169Ser
XM_011515459.1:c.641C>G XP_011513761.1:p.Thr214Ser
XM_011515460.1:c.641C>G XP_011513762.1:p.Thr214Ser
XM_011515461.1:c.641C>G XP_011513763.1:p.Thr214Ser
XM_011515461.2:c.641C>G XP_011513763.1:p.Thr214Ser
XM_017012466.2:c.641C>G XP_016867955.1:p.Thr214Ser
XM_017012467.2:c.641C>G XP_016867956.1:p.Thr214Ser
XM_017012468.2:c.506C>G XP_016867957.1:p.Thr169Ser
XM_017012469.2:c.506C>G XP_016867958.1:p.Thr169Ser
XR_002956470.1:n.1299C>G