Canonical Allele Identifier: CA580433106
Gene: SGCZ HGNC NCBI

Linked Data

dbSNP Id: rs1287266827
gnomAD v2: 8-14927115-A-G
gnomAD v3: 8-15069606-A-G
gnomAD v4: 8-15069606-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.15069606A>G , CM000670.2:g.15069606A>G GRCh38
NC_000008.10:g.14927115A>G , CM000670.1:g.14927115A>G GRCh37
NC_000008.9:g.14971486A>G NCBI36
NG_008899.1:g.173678T>C , LRG_208:g.173678T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382080.6:c.39+167979T>C MANE Select ENSP00000371512.1:n.39+167979T>C
ENST00000382080.5:c.39+167979T>C ENSP00000371512.1:n.39+167979T>C
NM_139167.2:c.39+167979T>C , LRG_208t1:c.39+167979T>C NP_631906.2:n.39+167979T>C
NM_001322879.1:c.39+167979T>C NP_001309808.1:n.39+167979T>C
NM_001322880.1:c.39+167979T>C NP_001309809.1:n.39+167979T>C
NM_001322881.1:c.-90+167979T>C NP_001309810.1:n.-90+167979T>C
NM_139167.3:c.39+167979T>C NP_631906.2:n.39+167979T>C
NM_139167.4:c.39+167979T>C MANE Select NP_631906.2:n.39+167979T>C
NM_001322879.2:c.39+167979T>C NP_001309808.1:n.39+167979T>C
NM_001322880.2:c.39+167979T>C NP_001309809.1:n.39+167979T>C
NM_001322881.2:c.-90+167979T>C NP_001309810.1:n.-90+167979T>C