Canonical Allele Identifier: CA13247230
Community Standard Title: NM_020338.4(ZMIZ1):c.-49-17111T>G
Gene: ZMIZ1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.79184473T>G , CM000672.2:g.79184473T>G GRCh38
NC_000010.10:g.80944230T>G , CM000672.1:g.80944230T>G GRCh37
NC_000010.9:g.80614236T>G NCBI36
NG_028289.1:g.120439T>G

Transcript Alleles

HGVS Amino-acid Change
NM_020338.4:c.-49-17111T>G MANE Select NP_065071.1:n.-49-17111T>G
ENST00000334512.10:c.-49-17111T>G MANE Select ENSP00000334474.5:n.-49-17111T>G
NM_020338.3:c.-49-17111T>G NP_065071.1:n.-49-17111T>G
ENST00000334512.9:c.-49-17111T>G ENSP00000334474.5:n.-49-17111T>G
XM_005269987.3:c.-49-17111T>G XP_005270044.1:n.-49-17111T>G
XM_005269987.5:c.-49-17111T>G XP_005270044.1:n.-49-17111T>G
XM_005269988.2:c.-49-17111T>G XP_005270045.1:n.-49-17111T>G
XM_005269988.3:c.-49-17111T>G XP_005270045.1:n.-49-17111T>G
XM_006717923.2:c.-49-17111T>G XP_006717986.1:n.-49-17111T>G
XM_006717923.3:c.-49-17111T>G XP_006717986.1:n.-49-17111T>G
XM_006717924.2:c.-49-17111T>G XP_006717987.1:n.-49-17111T>G
XM_006717924.3:c.-49-17111T>G XP_006717987.1:n.-49-17111T>G
XM_006717925.2:c.-49-17111T>G XP_006717988.1:n.-49-17111T>G
XM_006717925.3:c.-49-17111T>G XP_006717988.1:n.-49-17111T>G