Canonical Allele Identifier: CA1111130524

Gene: SGCZ

Linked Data

• dbSNP Id: rs1805285044
• gnomAD v3: 8-15069768-T-C
• gnomAD v4: 8-15069768-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.15069768T>C , CM000670.2:g.15069768T>C	GRCh38
NC_000008.10:g.14927277T>C , CM000670.1:g.14927277T>C	GRCh37
NC_000008.9:g.14971648T>C	NCBI36
NG_008899.1:g.173516A>G , LRG_208:g.173516A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382080.6:c.39+167817A>G MANE Select	ENSP00000371512.1:n.39+167817A>G
ENST00000382080.5:c.39+167817A>G	ENSP00000371512.1:n.39+167817A>G
NM_139167.2:c.39+167817A>G , LRG_208t1:c.39+167817A>G	NP_631906.2:n.39+167817A>G
NM_001322879.1:c.39+167817A>G	NP_001309808.1:n.39+167817A>G
NM_001322880.1:c.39+167817A>G	NP_001309809.1:n.39+167817A>G
NM_001322881.1:c.-90+167817A>G	NP_001309810.1:n.-90+167817A>G
NM_139167.3:c.39+167817A>G	NP_631906.2:n.39+167817A>G
NM_139167.4:c.39+167817A>G MANE Select	NP_631906.2:n.39+167817A>G
NM_001322879.2:c.39+167817A>G	NP_001309808.1:n.39+167817A>G
NM_001322880.2:c.39+167817A>G	NP_001309809.1:n.39+167817A>G
NM_001322881.2:c.-90+167817A>G	NP_001309810.1:n.-90+167817A>G