Canonical Allele Identifier: CA580433127

Gene: SGCZ

Linked Data

• dbSNP Id: rs1233094561
• gnomAD v2: 8-14927408-C-G
• gnomAD v3: 8-15069899-C-G
• gnomAD v4: 8-15069899-C-G
• MyVariant Identifiers: chr8:g.14927408C>G (hg19) ; chr8:g.15069899C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.15069899C>G , CM000670.2:g.15069899C>G	GRCh38
NC_000008.10:g.14927408C>G , CM000670.1:g.14927408C>G	GRCh37
NC_000008.9:g.14971779C>G	NCBI36
NG_008899.1:g.173385G>C , LRG_208:g.173385G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382080.6:c.39+167686G>C MANE Select	ENSP00000371512.1:n.39+167686G>C
ENST00000382080.5:c.39+167686G>C	ENSP00000371512.1:n.39+167686G>C
NM_139167.2:c.39+167686G>C , LRG_208t1:c.39+167686G>C	NP_631906.2:n.39+167686G>C
NM_001322879.1:c.39+167686G>C	NP_001309808.1:n.39+167686G>C
NM_001322880.1:c.39+167686G>C	NP_001309809.1:n.39+167686G>C
NM_001322881.1:c.-90+167686G>C	NP_001309810.1:n.-90+167686G>C
NM_139167.3:c.39+167686G>C	NP_631906.2:n.39+167686G>C
NM_139167.4:c.39+167686G>C MANE Select	NP_631906.2:n.39+167686G>C
NM_001322879.2:c.39+167686G>C	NP_001309808.1:n.39+167686G>C
NM_001322880.2:c.39+167686G>C	NP_001309809.1:n.39+167686G>C
NM_001322881.2:c.-90+167686G>C	NP_001309810.1:n.-90+167686G>C