Canonical Allele Identifier: CA12890514

Gene: SGCZ

Linked Data

• dbSNP Id: rs28605251
• gnomAD v2: 8-14927046-G-A
• gnomAD v3: 8-15069537-G-A
• gnomAD v4: 8-15069537-G-A
• MyVariant Identifiers: chr8:g.14927046G>A (hg19) ; chr8:g.15069537G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.15069537G>A , CM000670.2:g.15069537G>A	GRCh38
NC_000008.10:g.14927046G>A , CM000670.1:g.14927046G>A	GRCh37
NC_000008.9:g.14971417G>A	NCBI36
NG_008899.1:g.173747C>T , LRG_208:g.173747C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382080.6:c.39+168048C>T MANE Select	ENSP00000371512.1:n.39+168048C>T
ENST00000382080.5:c.39+168048C>T	ENSP00000371512.1:n.39+168048C>T
NM_139167.2:c.39+168048C>T , LRG_208t1:c.39+168048C>T	NP_631906.2:n.39+168048C>T
NM_001322879.1:c.39+168048C>T	NP_001309808.1:n.39+168048C>T
NM_001322880.1:c.39+168048C>T	NP_001309809.1:n.39+168048C>T
NM_001322881.1:c.-90+168048C>T	NP_001309810.1:n.-90+168048C>T
NM_139167.3:c.39+168048C>T	NP_631906.2:n.39+168048C>T
NM_139167.4:c.39+168048C>T MANE Select	NP_631906.2:n.39+168048C>T
NM_001322879.2:c.39+168048C>T	NP_001309808.1:n.39+168048C>T
NM_001322880.2:c.39+168048C>T	NP_001309809.1:n.39+168048C>T
NM_001322881.2:c.-90+168048C>T	NP_001309810.1:n.-90+168048C>T