Canonical Allele Identifier: CA2588893711

Gene: ZMIZ1

Linked Data

• dbSNP Id: rs2132204264
• gnomAD v3: 10-79085674-G-T
• gnomAD v4: 10-79085674-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.79085674G>T , CM000672.2:g.79085674G>T	GRCh38
NC_000010.10:g.80845431G>T , CM000672.1:g.80845431G>T	GRCh37
NC_000010.9:g.80515437G>T	NCBI36
NG_028289.1:g.21640G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334512.10:c.-337+16404G>T MANE Select	ENSP00000334474.5:n.-337+16404G>T
ENST00000334512.9:c.-337+16404G>T	ENSP00000334474.5:n.-337+16404G>T
NM_020338.3:c.-337+16404G>T	NP_065071.1:n.-337+16404G>T
XM_005269988.2:c.-337+16404G>T	XP_005270045.1:n.-337+16404G>T
XM_006717923.2:c.-334+16404G>T	XP_006717986.1:n.-334+16404G>T
XM_006717924.2:c.-256+16404G>T	XP_006717987.1:n.-256+16404G>T
XM_006717925.2:c.-337+16404G>T	XP_006717988.1:n.-337+16404G>T
XM_005269988.3:c.-337+16404G>T	XP_005270045.1:n.-337+16404G>T
XM_006717923.3:c.-334+16404G>T	XP_006717986.1:n.-334+16404G>T
XM_006717924.3:c.-256+16404G>T	XP_006717987.1:n.-256+16404G>T
XM_006717925.3:c.-337+16404G>T	XP_006717988.1:n.-337+16404G>T
NM_020338.4:c.-337+16404G>T MANE Select	NP_065071.1:n.-337+16404G>T