Canonical Allele Identifier: CA2586252349

Gene: IZUMO1

Linked Data

• gnomAD v4: 19-48745482-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.48745482T>C , CM000681.2:g.48745482T>C	GRCh38
NC_000019.9:g.49248739T>C , CM000681.1:g.49248739T>C	GRCh37
NC_000019.8:g.53940551T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000332955.7:c.235+143A>G MANE Select	ENSP00000327786.2:n.235+143A>G
ENST00000332955.6:c.235+143A>G	ENSP00000327786.2:n.235+143A>G
ENST00000595517.5:c.169-194A>G	ENSP00000471815.1:n.169-194A>G
ENST00000595937.5:c.235+143A>G	ENSP00000470144.1:n.235+143A>G
ENST00000597553.1:n.699A>G
ENST00000602105.1:c.-104-194A>G	ENSP00000471134.1:n.-104-194A>G
NM_182575.2:c.235+143A>G	NP_872381.2:n.235+143A>G
XM_005258793.3:c.313+143A>G	XP_005258850.1:n.313+143A>G
XM_005258797.3:c.-104-194A>G	XP_005258854.1:n.-104-194A>G
XM_005258798.3:c.-104-194A>G	XP_005258855.1:n.-104-194A>G
XM_011526811.1:c.334+143A>G	XP_011525113.1:n.334+143A>G
XM_011526812.1:c.235+143A>G	XP_011525114.1:n.235+143A>G
XM_011526813.1:c.235+143A>G	XP_011525115.1:n.235+143A>G
XM_011526814.1:c.43A>G	XP_011525116.1:p.Asn15Asp
XM_011526815.1:c.-105+4A>G	XP_011525117.1:n.-105+4A>G
XM_011526816.1:c.-104-194A>G	XP_011525118.1:n.-104-194A>G
XM_011526817.1:c.-104-194A>G	XP_011525119.1:n.-104-194A>G
XR_243923.2:n.1248+143A>G
XR_430196.2:n.1248+143A>G
XR_935799.1:n.1248+143A>G
NM_001321864.1:c.-104-194A>G	NP_001308793.1:n.-104-194A>G
NM_001321865.1:c.-325+143A>G	NP_001308794.1:n.-325+143A>G
NR_135832.1:n.242-194A>G
NM_182575.3:c.235+143A>G MANE Select	NP_872381.2:n.235+143A>G