Canonical Allele Identifier: CA1765863488
Community Standard Title: NM_139167.4(SGCZ):c.234+22760T=
Gene: SGCZ HGNC NCBI

Genomic Alleles

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

Transcript Alleles

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