Canonical Allele Identifier: CA172752021

Gene: SGCZ

Linked Data

• dbSNP Id: rs185583688
• gnomAD v2: 8-14927189-A-G
• gnomAD v3: 8-15069680-A-G
• gnomAD v4: 8-15069680-A-G
• MyVariant Identifiers: chr8:g.14927189A>G (hg19) ; chr8:g.15069680A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.15069680A>G , CM000670.2:g.15069680A>G	GRCh38
NC_000008.10:g.14927189A>G , CM000670.1:g.14927189A>G	GRCh37
NC_000008.9:g.14971560A>G	NCBI36
NG_008899.1:g.173604T>C , LRG_208:g.173604T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000382080.6:c.39+167905T>C MANE Select	ENSP00000371512.1:n.39+167905T>C
ENST00000382080.5:c.39+167905T>C	ENSP00000371512.1:n.39+167905T>C
NM_139167.2:c.39+167905T>C , LRG_208t1:c.39+167905T>C	NP_631906.2:n.39+167905T>C
NM_001322879.1:c.39+167905T>C	NP_001309808.1:n.39+167905T>C
NM_001322880.1:c.39+167905T>C	NP_001309809.1:n.39+167905T>C
NM_001322881.1:c.-90+167905T>C	NP_001309810.1:n.-90+167905T>C
NM_139167.3:c.39+167905T>C	NP_631906.2:n.39+167905T>C
NM_139167.4:c.39+167905T>C MANE Select	NP_631906.2:n.39+167905T>C
NM_001322879.2:c.39+167905T>C	NP_001309808.1:n.39+167905T>C
NM_001322880.2:c.39+167905T>C	NP_001309809.1:n.39+167905T>C
NM_001322881.2:c.-90+167905T>C	NP_001309810.1:n.-90+167905T>C