Canonical Allele Identifier: CA1111130334

Gene: SGCZ

Linked Data

• dbSNP Id: rs1805273806
• gnomAD v3: 8-15069464-A-T
• gnomAD v4: 8-15069464-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.15069464A>T , CM000670.2:g.15069464A>T	GRCh38
NC_000008.10:g.14926973A>T , CM000670.1:g.14926973A>T	GRCh37
NC_000008.9:g.14971344A>T	NCBI36
NG_008899.1:g.173820T>A , LRG_208:g.173820T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382080.6:c.39+168121T>A MANE Select	ENSP00000371512.1:n.39+168121T>A
ENST00000382080.5:c.39+168121T>A	ENSP00000371512.1:n.39+168121T>A
NM_139167.2:c.39+168121T>A , LRG_208t1:c.39+168121T>A	NP_631906.2:n.39+168121T>A
NM_001322879.1:c.39+168121T>A	NP_001309808.1:n.39+168121T>A
NM_001322880.1:c.39+168121T>A	NP_001309809.1:n.39+168121T>A
NM_001322881.1:c.-90+168121T>A	NP_001309810.1:n.-90+168121T>A
NM_139167.3:c.39+168121T>A	NP_631906.2:n.39+168121T>A
NM_139167.4:c.39+168121T>A MANE Select	NP_631906.2:n.39+168121T>A
NM_001322879.2:c.39+168121T>A	NP_001309808.1:n.39+168121T>A
NM_001322880.2:c.39+168121T>A	NP_001309809.1:n.39+168121T>A
NM_001322881.2:c.-90+168121T>A	NP_001309810.1:n.-90+168121T>A