Canonical Allele Identifier: CA5572212
Community Standard Title: NM_020338.4(ZMIZ1):c.174+19C>T
Gene: ZMIZ1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.79208468C>T , CM000672.2:g.79208468C>T GRCh38
NC_000010.10:g.80968225C>T , CM000672.1:g.80968225C>T GRCh37
NC_000010.9:g.80638231C>T NCBI36
NG_028289.1:g.144434C>T

Transcript Alleles

HGVS Amino-acid Change
NM_020338.4:c.174+19C>T MANE Select NP_065071.1:n.174+19C>T
ENST00000334512.10:c.174+19C>T MANE Select ENSP00000334474.5:n.174+19C>T
NM_020338.3:c.174+19C>T NP_065071.1:n.174+19C>T
ENST00000334512.9:c.174+19C>T ENSP00000334474.5:n.174+19C>T
ENST00000611351.1:c.174+19C>T ENSP00000481736.1:n.174+19C>T
XM_005269987.3:c.174+19C>T XP_005270044.1:n.174+19C>T
XM_005269987.5:c.174+19C>T XP_005270044.1:n.174+19C>T
XM_005269988.2:c.174+19C>T XP_005270045.1:n.174+19C>T
XM_005269988.3:c.174+19C>T XP_005270045.1:n.174+19C>T
XM_006717923.2:c.174+19C>T XP_006717986.1:n.174+19C>T
XM_006717923.3:c.174+19C>T XP_006717986.1:n.174+19C>T
XM_006717924.2:c.174+19C>T XP_006717987.1:n.174+19C>T
XM_006717924.3:c.174+19C>T XP_006717987.1:n.174+19C>T
XM_006717925.2:c.174+19C>T XP_006717988.1:n.174+19C>T
XM_006717925.3:c.174+19C>T XP_006717988.1:n.174+19C>T