Canonical Allele Identifier: CA594668500

Gene: ZMIZ1

Linked Data

• dbSNP Id: rs1228474874
• gnomAD v2: 10-80845412-C-A
• gnomAD v3: 10-79085655-C-A
• gnomAD v4: 10-79085655-C-A
• MyVariant Identifiers: chr10:g.80845412C>A (hg19) ; chr10:g.79085655C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.79085655C>A , CM000672.2:g.79085655C>A	GRCh38
NC_000010.10:g.80845412C>A , CM000672.1:g.80845412C>A	GRCh37
NC_000010.9:g.80515418C>A	NCBI36
NG_028289.1:g.21621C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334512.10:c.-337+16385C>A MANE Select	ENSP00000334474.5:n.-337+16385C>A
ENST00000334512.9:c.-337+16385C>A	ENSP00000334474.5:n.-337+16385C>A
NM_020338.3:c.-337+16385C>A	NP_065071.1:n.-337+16385C>A
XM_005269988.2:c.-337+16385C>A	XP_005270045.1:n.-337+16385C>A
XM_006717923.2:c.-334+16385C>A	XP_006717986.1:n.-334+16385C>A
XM_006717924.2:c.-256+16385C>A	XP_006717987.1:n.-256+16385C>A
XM_006717925.2:c.-337+16385C>A	XP_006717988.1:n.-337+16385C>A
XM_005269988.3:c.-337+16385C>A	XP_005270045.1:n.-337+16385C>A
XM_006717923.3:c.-334+16385C>A	XP_006717986.1:n.-334+16385C>A
XM_006717924.3:c.-256+16385C>A	XP_006717987.1:n.-256+16385C>A
XM_006717925.3:c.-337+16385C>A	XP_006717988.1:n.-337+16385C>A
NM_020338.4:c.-337+16385C>A MANE Select	NP_065071.1:n.-337+16385C>A