Canonical Allele Identifier: CA2593421724

Gene: SGCZ

Linked Data

• dbSNP Id: rs2131025530
• gnomAD v3: 8-15069472-A-G
• gnomAD v4: 8-15069472-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.15069472A>G , CM000670.2:g.15069472A>G	GRCh38
NC_000008.10:g.14926981A>G , CM000670.1:g.14926981A>G	GRCh37
NC_000008.9:g.14971352A>G	NCBI36
NG_008899.1:g.173812T>C , LRG_208:g.173812T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382080.6:c.39+168113T>C MANE Select	ENSP00000371512.1:n.39+168113T>C
ENST00000382080.5:c.39+168113T>C	ENSP00000371512.1:n.39+168113T>C
NM_139167.2:c.39+168113T>C , LRG_208t1:c.39+168113T>C	NP_631906.2:n.39+168113T>C
NM_001322879.1:c.39+168113T>C	NP_001309808.1:n.39+168113T>C
NM_001322880.1:c.39+168113T>C	NP_001309809.1:n.39+168113T>C
NM_001322881.1:c.-90+168113T>C	NP_001309810.1:n.-90+168113T>C
NM_139167.3:c.39+168113T>C	NP_631906.2:n.39+168113T>C
NM_139167.4:c.39+168113T>C MANE Select	NP_631906.2:n.39+168113T>C
NM_001322879.2:c.39+168113T>C	NP_001309808.1:n.39+168113T>C
NM_001322880.2:c.39+168113T>C	NP_001309809.1:n.39+168113T>C
NM_001322881.2:c.-90+168113T>C	NP_001309810.1:n.-90+168113T>C