Canonical Allele Identifier: CA17867631
Community Standard Title: NM_001079843.3(CASZ1):c.3868+86C>G
Gene: CASZ1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.10644831G>C , CM000663.2:g.10644831G>C GRCh38
NC_000001.10:g.10704888G>C , CM000663.1:g.10704888G>C GRCh37
NC_000001.9:g.10627475G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001079843.3:c.3868+86C>G MANE Select NP_001073312.1:n.3868+86C>G
ENST00000377022.8:c.3868+86C>G MANE Select ENSP00000366221.3:n.3868+86C>G
NM_001079843.2:c.3868+86C>G NP_001073312.1:n.3868+86C>G
ENST00000377022.7:c.3868+86C>G ENSP00000366221.3:n.3868+86C>G
ENST00000447850.3:c.160+86C>G ENSP00000467769.2:n.160+86C>G
XM_005263479.2:c.3940+86C>G XP_005263536.1:n.3940+86C>G
XM_005263479.3:c.3940+86C>G XP_005263536.1:n.3940+86C>G
XM_006710712.2:c.3868+86C>G XP_006710775.1:n.3868+86C>G
XM_017001539.2:c.3940+86C>G XP_016857028.1:n.3940+86C>G
XM_017001540.2:c.3868+86C>G XP_016857029.1:n.3868+86C>G
XM_017001541.2:c.3868+86C>G XP_016857030.1:n.3868+86C>G