Canonical Allele Identifier: CA594684707

Gene: ZMIZ1

Linked Data

• dbSNP Id: rs1394070305
• gnomAD v2: 10-80960040-C-T
• MyVariant Identifiers: chr10:g.80960040C>T (hg19) ; chr10:g.79200283C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.79200283C>T , CM000672.2:g.79200283C>T	GRCh38
NC_000010.10:g.80960040C>T , CM000672.1:g.80960040C>T	GRCh37
NC_000010.9:g.80630046C>T	NCBI36
NG_028289.1:g.136249C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000334512.10:c.-49-1301C>T MANE Select	ENSP00000334474.5:n.-49-1301C>T
ENST00000334512.9:c.-49-1301C>T	ENSP00000334474.5:n.-49-1301C>T
NM_020338.3:c.-49-1301C>T	NP_065071.1:n.-49-1301C>T
XM_005269987.3:c.-49-1301C>T	XP_005270044.1:n.-49-1301C>T
XM_005269988.2:c.-49-1301C>T	XP_005270045.1:n.-49-1301C>T
XM_006717923.2:c.-49-1301C>T	XP_006717986.1:n.-49-1301C>T
XM_006717924.2:c.-49-1301C>T	XP_006717987.1:n.-49-1301C>T
XM_006717925.2:c.-49-1301C>T	XP_006717988.1:n.-49-1301C>T
XM_005269987.5:c.-49-1301C>T	XP_005270044.1:n.-49-1301C>T
XM_005269988.3:c.-49-1301C>T	XP_005270045.1:n.-49-1301C>T
XM_006717923.3:c.-49-1301C>T	XP_006717986.1:n.-49-1301C>T
XM_006717924.3:c.-49-1301C>T	XP_006717987.1:n.-49-1301C>T
XM_006717925.3:c.-49-1301C>T	XP_006717988.1:n.-49-1301C>T
NM_020338.4:c.-49-1301C>T MANE Select	NP_065071.1:n.-49-1301C>T