Canonical Allele Identifier: CA377337432

Gene: ZMIZ1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.79298516A>C , CM000672.2:g.79298516A>C	GRCh38
NC_000010.10:g.81058273A>C , CM000672.1:g.81058273A>C	GRCh37
NC_000010.9:g.80728279A>C	NCBI36
NG_028289.1:g.234482A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334512.10:c.1602A>C MANE Select	ENSP00000334474.5:p.Gln534His
ENST00000334512.9:c.1602A>C	ENSP00000334474.5:p.Gln534His
ENST00000446377.3:c.1323A>C	ENSP00000401558.3:p.Gln441His
ENST00000611351.1:c.458+8709A>C	ENSP00000481736.1:n.458+8709A>C
NM_020338.3:c.1602A>C	NP_065071.1:p.Gln534His
XM_005269987.3:c.1620A>C	XP_005270044.1:p.Gln540His
XM_005269988.2:c.1620A>C	XP_005270045.1:p.Gln540His
XM_006717923.2:c.1620A>C	XP_006717986.1:p.Gln540His
XM_006717924.2:c.1620A>C	XP_006717987.1:p.Gln540His
XM_006717925.2:c.1620A>C	XP_006717988.1:p.Gln540His
XM_011539978.1:c.1248A>C	XP_011538280.1:p.Gln416His
XM_011539979.1:c.1248A>C	XP_011538281.1:p.Gln416His
XM_011539980.1:c.1230A>C	XP_011538282.1:p.Gln410His
XM_005269987.5:c.1620A>C	XP_005270044.1:p.Gln540His
XM_005269988.3:c.1620A>C	XP_005270045.1:p.Gln540His
XM_006717923.3:c.1620A>C	XP_006717986.1:p.Gln540His
XM_006717924.3:c.1620A>C	XP_006717987.1:p.Gln540His
XM_006717925.3:c.1620A>C	XP_006717988.1:p.Gln540His
XM_011539978.2:c.1248A>C	XP_011538280.1:p.Gln416His
XM_011539980.3:c.1230A>C	XP_011538282.1:p.Gln410His
XM_017016440.2:c.1467A>C	XP_016871929.1:p.Gln489His
XM_017016441.1:c.1248A>C	XP_016871930.1:p.Gln416His
XM_017016442.1:c.1230A>C	XP_016871931.1:p.Gln410His
XM_017016443.1:c.1248A>C	XP_016871932.1:p.Gln416His
NM_020338.4:c.1602A>C MANE Select	NP_065071.1:p.Gln534His