Canonical Allele Identifier: CA2580951483
Community Standard Title: NM_020338.4(ZMIZ1):c.-49-6274C>G
Gene: ZMIZ1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.79195310C>G , CM000672.2:g.79195310C>G GRCh38
NC_000010.10:g.80955067C>G , CM000672.1:g.80955067C>G GRCh37
NC_000010.9:g.80625073C>G NCBI36
NG_028289.1:g.131276C>G

Transcript Alleles

HGVS Amino-acid Change
NM_020338.4:c.-49-6274C>G MANE Select NP_065071.1:n.-49-6274C>G
ENST00000334512.10:c.-49-6274C>G MANE Select ENSP00000334474.5:n.-49-6274C>G
NM_020338.3:c.-49-6274C>G NP_065071.1:n.-49-6274C>G
ENST00000334512.9:c.-49-6274C>G ENSP00000334474.5:n.-49-6274C>G
XM_005269987.3:c.-49-6274C>G XP_005270044.1:n.-49-6274C>G
XM_005269987.5:c.-49-6274C>G XP_005270044.1:n.-49-6274C>G
XM_005269988.2:c.-49-6274C>G XP_005270045.1:n.-49-6274C>G
XM_005269988.3:c.-49-6274C>G XP_005270045.1:n.-49-6274C>G
XM_006717923.2:c.-49-6274C>G XP_006717986.1:n.-49-6274C>G
XM_006717923.3:c.-49-6274C>G XP_006717986.1:n.-49-6274C>G
XM_006717924.2:c.-49-6274C>G XP_006717987.1:n.-49-6274C>G
XM_006717924.3:c.-49-6274C>G XP_006717987.1:n.-49-6274C>G
XM_006717925.2:c.-49-6274C>G XP_006717988.1:n.-49-6274C>G
XM_006717925.3:c.-49-6274C>G XP_006717988.1:n.-49-6274C>G