Canonical Allele Identifier: CA2340050185
Gene: IZUMO1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48745402C= , CM000681.2:g.48745402C= GRCh38
NC_000019.9:g.49248659C= , CM000681.1:g.49248659C= GRCh37
NC_000019.8:g.53940471C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000332955.7:c.236-114G= MANE Select ENSP00000327786.2:n.236-114G=
ENST00000332955.6:c.236-114G= ENSP00000327786.2:n.236-114G=
ENST00000595517.5:c.169-114G= ENSP00000471815.1:n.169-114G=
ENST00000595937.5:c.236-114G= ENSP00000470144.1:n.236-114G=
ENST00000597553.1:n.779G=
ENST00000602105.1:c.-104-114G= ENSP00000471134.1:n.-104-114G=
NM_182575.2:c.236-114G= NP_872381.2:n.236-114G=
XM_005258793.3:c.314-114G= XP_005258850.1:n.314-114G=
XM_005258797.3:c.-104-114G= XP_005258854.1:n.-104-114G=
XM_005258798.3:c.-104-114G= XP_005258855.1:n.-104-114G=
XM_011526811.1:c.335-114G= XP_011525113.1:n.335-114G=
XM_011526812.1:c.236-114G= XP_011525114.1:n.236-114G=
XM_011526813.1:c.236-114G= XP_011525115.1:n.236-114G=
XM_011526814.1:c.43+80G= XP_011525116.1:n.43+80G=
XM_011526815.1:c.-105+84G= XP_011525117.1:n.-105+84G=
XM_011526816.1:c.-104-114G= XP_011525118.1:n.-104-114G=
XM_011526817.1:c.-104-114G= XP_011525119.1:n.-104-114G=
XR_243923.2:n.1249-114G=
XR_430196.2:n.1249-114G=
XR_935799.1:n.1249-114G=
NM_001321864.1:c.-104-114G= NP_001308793.1:n.-104-114G=
NM_001321865.1:c.-324-114G= NP_001308794.1:n.-324-114G=
NR_135832.1:n.242-114G=
NM_182575.3:c.236-114G= MANE Select NP_872381.2:n.236-114G=