Canonical Allele Identifier: CA652310431
Gene: SGCZ HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

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