Canonical Allele Identifier: CA14645672
Gene: IZUMO1 HGNC NCBI

Linked Data

dbSNP Id: rs838145

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48745473G>A , CM000681.2:g.48745473G>A GRCh38
NC_000019.9:g.49248730G>A , CM000681.1:g.49248730G>A GRCh37
NC_000019.8:g.53940542G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000332955.7:c.235+152C>T MANE Select ENSP00000327786.2:p.=
ENST00000332955.6:c.235+152C>T ENSP00000327786.2:p.=
ENST00000595517.5:n.169-185C>T ENSP00000471815.1:p.=
ENST00000595937.5:n.235+152C>T ENSP00000470144.1:p.=
ENST00000597553.1:n.708C>T
ENST00000602105.1:c.-104-185C>T ENSP00000471134.1:p.=
NM_182575.2:c.235+152C>T NP_872381.2:p.=
XM_005258793.3:c.313+152C>T XP_005258850.1:p.=
XM_005258797.3:c.-104-185C>T XP_005258854.1:p.=
XM_005258798.3:c.-104-185C>T XP_005258855.1:p.=
XM_011526811.1:c.334+152C>T XP_011525113.1:p.=
XM_011526812.1:c.235+152C>T XP_011525114.1:p.=
XM_011526813.1:c.235+152C>T XP_011525115.1:p.=
XM_011526814.1:c.43+9C>T XP_011525116.1:p.=
XM_011526815.1:c.-105+13C>T XP_011525117.1:p.=
XM_011526816.1:c.-104-185C>T XP_011525118.1:p.=
XM_011526817.1:c.-104-185C>T XP_011525119.1:p.=
XR_243923.2:n.1248+152C>T
XR_430196.2:n.1248+152C>T
XR_935799.1:n.1248+152C>T
NM_001321864.1:c.-104-185C>T NP_001308793.1:p.=
NM_001321865.1:c.-325+152C>T NP_001308794.1:p.=
NR_135832.1:n.242-185C>T
NM_182575.3:c.235+152C>T MANE Select NP_872381.2:p.=