Canonical Allele Identifier: CA377413629

Gene: ZMIZ1

Linked Data

• ClinVar Variation Id: 487354
• ClinVar RCV Id: RCV000576559 ; RCV000856610 ; RCV001291147
• dbSNP Id: rs1554817910
• MyVariant Identifiers: chr10:g.80976023A>G (hg19) ; chr10:g.79216266A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.79216266A>G , CM000672.2:g.79216266A>G	GRCh38
NC_000010.10:g.80976023A>G , CM000672.1:g.80976023A>G	GRCh37
NC_000010.9:g.80646029A>G	NCBI36
NG_028289.1:g.152232A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334512.10:c.272A>G MANE Select	ENSP00000334474.5:p.Lys91Arg
ENST00000334512.9:c.272A>G	ENSP00000334474.5:p.Lys91Arg
ENST00000611351.1:c.272A>G	ENSP00000481736.1:p.Lys91Arg
NM_020338.3:c.272A>G	NP_065071.1:p.Lys91Arg
XM_005269987.3:c.272A>G	XP_005270044.1:p.Lys91Arg
XM_005269988.2:c.272A>G	XP_005270045.1:p.Lys91Arg
XM_006717923.2:c.272A>G	XP_006717986.1:p.Lys91Arg
XM_006717924.2:c.272A>G	XP_006717987.1:p.Lys91Arg
XM_006717925.2:c.272A>G	XP_006717988.1:p.Lys91Arg
XM_005269987.5:c.272A>G	XP_005270044.1:p.Lys91Arg
XM_005269988.3:c.272A>G	XP_005270045.1:p.Lys91Arg
XM_006717923.3:c.272A>G	XP_006717986.1:p.Lys91Arg
XM_006717924.3:c.272A>G	XP_006717987.1:p.Lys91Arg
XM_006717925.3:c.272A>G	XP_006717988.1:p.Lys91Arg
NM_020338.4:c.272A>G MANE Select	NP_065071.1:p.Lys91Arg