Canonical Allele Identifier: CA309384451

Gene: IZUMO1

Linked Data

• dbSNP Id: rs369333403
• gnomAD v4: 19-48745484-G-A
• MyVariant Identifiers: chr19:g.49248741G>A (hg19) ; chr19:g.48745484G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.48745484G>A , CM000681.2:g.48745484G>A	GRCh38
NC_000019.9:g.49248741G>A , CM000681.1:g.49248741G>A	GRCh37
NC_000019.8:g.53940553G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000332955.7:c.235+141C>T MANE Select	ENSP00000327786.2:n.235+141C>T
ENST00000332955.6:c.235+141C>T	ENSP00000327786.2:n.235+141C>T
ENST00000595517.5:c.169-196C>T	ENSP00000471815.1:n.169-196C>T
ENST00000595937.5:c.235+141C>T	ENSP00000470144.1:n.235+141C>T
ENST00000597553.1:n.697C>T
ENST00000602105.1:c.-104-196C>T	ENSP00000471134.1:n.-104-196C>T
NM_182575.2:c.235+141C>T	NP_872381.2:n.235+141C>T
XM_005258793.3:c.313+141C>T	XP_005258850.1:n.313+141C>T
XM_005258797.3:c.-104-196C>T	XP_005258854.1:n.-104-196C>T
XM_005258798.3:c.-104-196C>T	XP_005258855.1:n.-104-196C>T
XM_011526811.1:c.334+141C>T	XP_011525113.1:n.334+141C>T
XM_011526812.1:c.235+141C>T	XP_011525114.1:n.235+141C>T
XM_011526813.1:c.235+141C>T	XP_011525115.1:n.235+141C>T
XM_011526814.1:c.41C>T	XP_011525116.1:p.Ala14Val
XM_011526815.1:c.-105+2C>T	XP_011525117.1:n.-105+2C>T
XM_011526816.1:c.-104-196C>T	XP_011525118.1:n.-104-196C>T
XM_011526817.1:c.-104-196C>T	XP_011525119.1:n.-104-196C>T
XR_243923.2:n.1248+141C>T
XR_430196.2:n.1248+141C>T
XR_935799.1:n.1248+141C>T
NM_001321864.1:c.-104-196C>T	NP_001308793.1:n.-104-196C>T
NM_001321865.1:c.-325+141C>T	NP_001308794.1:n.-325+141C>T
NR_135832.1:n.242-196C>T
NM_182575.3:c.235+141C>T MANE Select	NP_872381.2:n.235+141C>T