Canonical Allele Identifier: CA580433095

Gene: SGCZ

Linked Data

• dbSNP Id: rs1293601280
• gnomAD v2: 8-14926978-C-A
• gnomAD v3: 8-15069469-C-A
• gnomAD v4: 8-15069469-C-A
• MyVariant Identifiers: chr8:g.14926978C>A (hg19) ; chr8:g.15069469C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.15069469C>A , CM000670.2:g.15069469C>A	GRCh38
NC_000008.10:g.14926978C>A , CM000670.1:g.14926978C>A	GRCh37
NC_000008.9:g.14971349C>A	NCBI36
NG_008899.1:g.173815G>T , LRG_208:g.173815G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000382080.6:c.39+168116G>T MANE Select	ENSP00000371512.1:n.39+168116G>T
ENST00000382080.5:c.39+168116G>T	ENSP00000371512.1:n.39+168116G>T
NM_139167.2:c.39+168116G>T , LRG_208t1:c.39+168116G>T	NP_631906.2:n.39+168116G>T
NM_001322879.1:c.39+168116G>T	NP_001309808.1:n.39+168116G>T
NM_001322880.1:c.39+168116G>T	NP_001309809.1:n.39+168116G>T
NM_001322881.1:c.-90+168116G>T	NP_001309810.1:n.-90+168116G>T
NM_139167.3:c.39+168116G>T	NP_631906.2:n.39+168116G>T
NM_139167.4:c.39+168116G>T MANE Select	NP_631906.2:n.39+168116G>T
NM_001322879.2:c.39+168116G>T	NP_001309808.1:n.39+168116G>T
NM_001322880.2:c.39+168116G>T	NP_001309809.1:n.39+168116G>T
NM_001322881.2:c.-90+168116G>T	NP_001309810.1:n.-90+168116G>T