Canonical Allele Identifier: CA2399163532
Gene: SEZ6L HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.26374424A>C , CM000684.2:g.26374424A>C GRCh38
NC_000022.10:g.26770390A>C , CM000684.1:g.26770390A>C GRCh37
NC_000022.9:g.25100390A>C NCBI36
NG_054877.1:g.209951A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000248933.11:c.2827+941A>C MANE Select ENSP00000248933.6:n.2827+941A>C
ENST00000248933.10:c.2827+941A>C ENSP00000248933.6:n.2827+941A>C
ENST00000343706.8:c.2600-1151A>C ENSP00000342661.4:n.2600-1151A>C
ENST00000360929.7:c.2603-1151A>C ENSP00000354185.3:n.2603-1151A>C
ENST00000402979.1:c.2146+941A>C ENSP00000384733.1:n.2146+941A>C
ENST00000403121.5:c.1919-1154A>C ENSP00000384838.1:n.1919-1154A>C
ENST00000404234.7:c.2827+941A>C ENSP00000384772.3:n.2827+941A>C
ENST00000494013.1:n.404-1154A>C
ENST00000529632.6:c.2795-1157A>C ENSP00000437037.3:n.2795-1157A>C
ENST00000629590.2:c.2795-1151A>C ENSP00000485720.1:n.2795-1151A>C
NM_001184773.1:c.2827+941A>C NP_001171702.1:n.2827+941A>C
NM_001184774.1:c.2795-1151A>C NP_001171703.1:n.2795-1151A>C
NM_001184775.1:c.2795-1157A>C NP_001171704.1:n.2795-1157A>C
NM_001184776.1:c.2603-1151A>C NP_001171705.1:n.2603-1151A>C
NM_001184777.1:c.2600-1151A>C NP_001171706.1:n.2600-1151A>C
NM_021115.4:c.2827+941A>C NP_066938.2:n.2827+941A>C
XM_005261439.2:c.2795-1154A>C XP_005261496.1:n.2795-1154A>C
XM_005261440.2:c.2635+941A>C XP_005261497.1:n.2635+941A>C
XM_006724195.2:c.2827+941A>C XP_006724258.1:n.2827+941A>C
XM_011530037.1:c.2632+941A>C XP_011528339.1:n.2632+941A>C
XM_011530038.1:c.2632+941A>C XP_011528340.1:n.2632+941A>C
XM_011530039.1:c.2632+941A>C XP_011528341.1:n.2632+941A>C
XM_005261439.3:c.2795-1154A>C XP_005261496.1:n.2795-1154A>C
XM_005261440.3:c.2635+941A>C XP_005261497.1:n.2635+941A>C
XM_006724195.3:c.2827+941A>C XP_006724258.1:n.2827+941A>C
XM_011530037.2:c.2632+941A>C XP_011528339.1:n.2632+941A>C
XM_011530038.2:c.2632+941A>C XP_011528340.1:n.2632+941A>C
XM_011530039.2:c.2632+941A>C XP_011528341.1:n.2632+941A>C
XM_017028699.1:c.2635+941A>C XP_016884188.1:n.2635+941A>C
XM_017028700.1:c.2635+941A>C XP_016884189.1:n.2635+941A>C
NM_021115.5:c.2827+941A>C MANE Select NP_066938.2:n.2827+941A>C
NM_001184773.2:c.2827+941A>C NP_001171702.1:n.2827+941A>C
NM_001184774.2:c.2795-1151A>C NP_001171703.1:n.2795-1151A>C
NM_001184776.2:c.2603-1151A>C NP_001171705.1:n.2603-1151A>C
NM_001184777.2:c.2600-1151A>C NP_001171706.1:n.2600-1151A>C
NM_001184775.2:c.2795-1157A>C NP_001171704.1:n.2795-1157A>C