Canonical Allele Identifier: CA10714827
Gene: CASZ1 HGNC NCBI

Linked Data

dbSNP Id: rs12046278
gnomAD v2: 1-10799577-T-C
gnomAD v3: 1-10739520-T-C
gnomAD v4: 1-10739520-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.10739520T>C , CM000663.2:g.10739520T>C GRCh38
NC_000001.10:g.10799577T>C , CM000663.1:g.10799577T>C GRCh37
NC_000001.9:g.10722164T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000377022.8:c.-77+21181A>G MANE Select ENSP00000366221.3:n.-77+21181A>G
ENST00000344008.5:c.-77+21181A>G ENSP00000339445.5:n.-77+21181A>G
ENST00000377022.7:c.-77+21181A>G ENSP00000366221.3:n.-77+21181A>G
NM_001079843.2:c.-77+21181A>G NP_001073312.1:n.-77+21181A>G
NM_017766.4:c.-77+21181A>G NP_060236.3:n.-77+21181A>G
XM_006710712.2:c.-77+21181A>G XP_006710775.1:n.-77+21181A>G
XM_017001540.2:c.-77+21181A>G XP_016857029.1:n.-77+21181A>G
XM_017001541.2:c.-77+21181A>G XP_016857030.1:n.-77+21181A>G
NM_001079843.3:c.-77+21181A>G MANE Select NP_001073312.1:n.-77+21181A>G
NM_017766.5:c.-77+21181A>G NP_060236.3:n.-77+21181A>G