Canonical Allele Identifier: CA2340050189
Gene: IZUMO1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48745407C= , CM000681.2:g.48745407C= GRCh38
NC_000019.9:g.49248664C= , CM000681.1:g.49248664C= GRCh37
NC_000019.8:g.53940476C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000332955.7:c.236-119G= MANE Select ENSP00000327786.2:n.236-119G=
ENST00000332955.6:c.236-119G= ENSP00000327786.2:n.236-119G=
ENST00000595517.5:c.169-119G= ENSP00000471815.1:n.169-119G=
ENST00000595937.5:c.236-119G= ENSP00000470144.1:n.236-119G=
ENST00000597553.1:n.774G=
ENST00000602105.1:c.-104-119G= ENSP00000471134.1:n.-104-119G=
NM_182575.2:c.236-119G= NP_872381.2:n.236-119G=
XM_005258793.3:c.314-119G= XP_005258850.1:n.314-119G=
XM_005258797.3:c.-104-119G= XP_005258854.1:n.-104-119G=
XM_005258798.3:c.-104-119G= XP_005258855.1:n.-104-119G=
XM_011526811.1:c.335-119G= XP_011525113.1:n.335-119G=
XM_011526812.1:c.236-119G= XP_011525114.1:n.236-119G=
XM_011526813.1:c.236-119G= XP_011525115.1:n.236-119G=
XM_011526814.1:c.43+75G= XP_011525116.1:n.43+75G=
XM_011526815.1:c.-105+79G= XP_011525117.1:n.-105+79G=
XM_011526816.1:c.-104-119G= XP_011525118.1:n.-104-119G=
XM_011526817.1:c.-104-119G= XP_011525119.1:n.-104-119G=
XR_243923.2:n.1249-119G=
XR_430196.2:n.1249-119G=
XR_935799.1:n.1249-119G=
NM_001321864.1:c.-104-119G= NP_001308793.1:n.-104-119G=
NM_001321865.1:c.-324-119G= NP_001308794.1:n.-324-119G=
NR_135832.1:n.242-119G=
NM_182575.3:c.236-119G= MANE Select NP_872381.2:n.236-119G=