Canonical Allele Identifier: CA2580800789

Gene: SGCZ

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.14531972A>C , CM000670.2:g.14531972A>C	GRCh38
NC_000008.10:g.14389481A>C , CM000670.1:g.14389481A>C	GRCh37
NC_000008.9:g.14433852A>C	NCBI36
NG_008899.1:g.711312T>G , LRG_208:g.711312T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_139167.4:c.234+22760T>G MANE Select	NP_631906.2:n.234+22760T>G
ENST00000382080.6:c.234+22760T>G MANE Select	ENSP00000371512.1:n.234+22760T>G
NM_001322879.1:c.234+22760T>G	NP_001309808.1:n.234+22760T>G
NM_001322879.2:c.234+22760T>G	NP_001309808.1:n.234+22760T>G
NM_001322880.1:c.234+22760T>G	NP_001309809.1:n.234+22760T>G
NM_001322880.2:c.234+22760T>G	NP_001309809.1:n.234+22760T>G
NM_001322881.1:c.12+22854T>G	NP_001309810.1:n.12+22854T>G
NM_001322881.2:c.12+22854T>G	NP_001309810.1:n.12+22854T>G
NM_139167.2:c.234+22760T>G , LRG_208t1:c.234+22760T>G	NP_631906.2:n.234+22760T>G
NM_139167.3:c.234+22760T>G	NP_631906.2:n.234+22760T>G
ENST00000382080.5:c.234+22760T>G	ENSP00000371512.1:n.234+22760T>G
ENST00000421524.6:c.195+22760T>G	ENSP00000405224.2:n.195+22760T>G