Canonical Allele Identifier: CA351902847
Community Standard Title: NM_001394966.1(NEK10):c.2243C>T (p.Pro748Leu)
Gene: NEK10 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.27201558G>A , CM000665.2:g.27201558G>A GRCh38
NC_000003.11:g.27243049G>A , CM000665.1:g.27243049G>A GRCh37
NC_000003.10:g.27218053G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001394966.1:c.2243C>T MANE Select NP_001381895.1:p.Pro748Leu
ENST00000691995.1:c.2243C>T MANE Select ENSP00000509472.1:p.Pro748Leu
NM_001031741.3:c.179C>T NP_001026911.1:p.Pro60Leu
NM_001031741.4:c.179C>T NP_001026911.1:p.Pro60Leu
NM_001031741.5:c.179C>T NP_001026911.1:p.Pro60Leu
NM_001304384.1:c.179C>T NP_001291313.1:p.Pro60Leu
NM_001304384.2:c.179C>T NP_001291313.1:p.Pro60Leu
NM_001304384.3:c.179C>T NP_001291313.1:p.Pro60Leu
NM_001394963.1:c.2243C>T NP_001381892.1:p.Pro748Leu
NM_001394964.1:c.2156C>T NP_001381893.1:p.Pro719Leu
NM_001394965.1:c.2243C>T NP_001381894.1:p.Pro748Leu
NM_001394967.1:c.2156C>T NP_001381896.1:p.Pro719Leu
NM_001394968.1:c.2126C>T NP_001381897.1:p.Pro709Leu
NM_001394969.1:c.2004-9316C>T NP_001381898.1:n.2004-9316C>T
NM_001394970.1:c.2243C>T NP_001381899.1:p.Pro748Leu
NM_001394971.1:c.2243C>T NP_001381900.1:p.Pro748Leu
NM_152534.4:c.2243C>T NP_689747.3:p.Pro748Leu
NM_152534.5:c.2243C>T NP_689747.3:p.Pro748Leu
NM_152534.6:c.2243C>T NP_689747.3:p.Pro748Leu
ENST00000295720.10:c.179C>T ENSP00000295720.6:p.Pro60Leu
ENST00000383770.4:c.152C>T ENSP00000373280.4:p.Pro51Leu
ENST00000383771.8:c.179C>T ENSP00000373281.4:p.Pro60Leu
ENST00000429845.6:c.2243C>T ENSP00000395849.2:p.Pro748Leu
ENST00000574215.5:n.639C>T
XM_006712997.2:c.2243C>T XP_006713060.1:p.Pro748Leu
XM_006712997.3:c.2243C>T XP_006713060.1:p.Pro748Leu
XM_006712998.2:c.2243C>T XP_006713061.1:p.Pro748Leu
XM_006712999.2:c.2243C>T XP_006713062.1:p.Pro748Leu
XM_006712999.3:c.2243C>T XP_006713062.1:p.Pro748Leu
XM_006713001.2:c.2243C>T XP_006713064.1:p.Pro748Leu
XM_006713001.3:c.2243C>T XP_006713064.1:p.Pro748Leu
XM_011533404.1:c.2243C>T XP_011531706.1:p.Pro748Leu
XM_011533405.1:c.2243C>T XP_011531707.1:p.Pro748Leu
XM_011533406.1:c.2243C>T XP_011531708.1:p.Pro748Leu
XM_011533407.1:c.2243C>T XP_011531709.1:p.Pro748Leu
XM_011533408.1:c.2243C>T XP_011531710.1:p.Pro748Leu
XM_011533409.1:c.2243C>T XP_011531711.1:p.Pro748Leu
XM_011533410.1:c.2105C>T XP_011531712.1:p.Pro702Leu
XM_011533411.1:c.2243C>T XP_011531713.1:p.Pro748Leu
XM_011533412.1:c.2243C>T XP_011531714.1:p.Pro748Leu
XM_017005761.2:c.2243C>T XP_016861250.1:p.Pro748Leu
XM_017005762.2:c.2243C>T XP_016861251.1:p.Pro748Leu
XM_017005763.1:c.2243C>T XP_016861252.1:p.Pro748Leu
XM_017005764.1:c.2243C>T XP_016861253.1:p.Pro748Leu
XM_017005765.1:c.2243C>T XP_016861254.1:p.Pro748Leu
XM_017005766.2:c.2243C>T XP_016861255.1:p.Pro748Leu
XM_017005767.2:c.2156C>T XP_016861256.1:p.Pro719Leu
XM_017005768.1:c.2105C>T XP_016861257.1:p.Pro702Leu
XM_017005769.1:c.2243C>T XP_016861258.1:p.Pro748Leu
XM_017005770.2:c.2243C>T XP_016861259.1:p.Pro748Leu
XM_017005771.2:c.2243C>T XP_016861260.1:p.Pro748Leu
XM_017005772.2:c.2156C>T XP_016861261.1:p.Pro719Leu
XM_017005773.1:c.2243C>T XP_016861262.1:p.Pro748Leu
XM_024453373.1:c.2156C>T XP_024309141.1:p.Pro719Leu
XM_024453374.1:c.1034C>T XP_024309142.1:p.Pro345Leu
XR_001740034.1:n.2517C>T
XR_940384.1:n.2517C>T