Canonical Allele Identifier: CA13323523
Gene: ZMIZ1 HGNC NCBI
MyVariant.info:
GRCh38 chr10:g.79295869C>T
GRCh37 chr10:g.81055626C>T
gnomAD v2:
10:81055626 C / T
gnomAD v3:
10:79295869 C / T
gnomAD v4:
chr10-79295869-C-T
Joint Max Group AF 0.22908316 (EAS)
Genomes Max Group AF 0.22908316 (EAS)
Exomes Max Group AF 0.02985005 (SAS)
dbSNP:
12355688
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.79295869C>T , CM000672.2:g.79295869C>T GRCh38
NC_000010.10:g.81055626C>T , CM000672.1:g.81055626C>T GRCh37
NC_000010.9:g.80725632C>T NCBI36
NG_028289.1:g.231835C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000334512.10:c.1231-602C>T MANE Select ENSP00000334474.5:n.1231-602C>T
ENST00000334512.9:c.1231-602C>T ENSP00000334474.5:n.1231-602C>T
ENST00000446377.3:c.952-602C>T ENSP00000401558.3:n.952-602C>T
ENST00000478357.1:n.3186C>T
ENST00000611351.1:c.458+6062C>T ENSP00000481736.1:n.458+6062C>T
NM_020338.3:c.1231-602C>T NP_065071.1:n.1231-602C>T
XM_005269987.3:c.1249-602C>T XP_005270044.1:n.1249-602C>T
XM_005269988.2:c.1249-602C>T XP_005270045.1:n.1249-602C>T
XM_006717923.2:c.1249-602C>T XP_006717986.1:n.1249-602C>T
XM_006717924.2:c.1249-602C>T XP_006717987.1:n.1249-602C>T
XM_006717925.2:c.1249-602C>T XP_006717988.1:n.1249-602C>T
XM_011539978.1:c.877-602C>T XP_011538280.1:n.877-602C>T
XM_011539979.1:c.877-602C>T XP_011538281.1:n.877-602C>T
XM_011539980.1:c.859-602C>T XP_011538282.1:n.859-602C>T
XM_005269987.5:c.1249-602C>T XP_005270044.1:n.1249-602C>T
XM_005269988.3:c.1249-602C>T XP_005270045.1:n.1249-602C>T
XM_006717923.3:c.1249-602C>T XP_006717986.1:n.1249-602C>T
XM_006717924.3:c.1249-602C>T XP_006717987.1:n.1249-602C>T
XM_006717925.3:c.1249-602C>T XP_006717988.1:n.1249-602C>T
XM_011539978.2:c.877-602C>T XP_011538280.1:n.877-602C>T
XM_011539980.3:c.859-602C>T XP_011538282.1:n.859-602C>T
XM_017016440.2:c.1096-602C>T XP_016871929.1:n.1096-602C>T
XM_017016441.1:c.877-602C>T XP_016871930.1:n.877-602C>T
XM_017016442.1:c.859-602C>T XP_016871931.1:n.859-602C>T
XM_017016443.1:c.877-602C>T XP_016871932.1:n.877-602C>T
NM_020338.4:c.1231-602C>T MANE Select NP_065071.1:n.1231-602C>T
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