Canonical Allele Identifier: CA1111130367

Gene: SGCZ

Linked Data

• gnomAD v3: 8-15069504-G-T
• gnomAD v4: 8-15069504-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.15069504G>T , CM000670.2:g.15069504G>T	GRCh38
NC_000008.10:g.14927013G>T , CM000670.1:g.14927013G>T	GRCh37
NC_000008.9:g.14971384G>T	NCBI36
NG_008899.1:g.173780C>A , LRG_208:g.173780C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000382080.6:c.39+168081C>A MANE Select	ENSP00000371512.1:n.39+168081C>A
ENST00000382080.5:c.39+168081C>A	ENSP00000371512.1:n.39+168081C>A
NM_139167.2:c.39+168081C>A , LRG_208t1:c.39+168081C>A	NP_631906.2:n.39+168081C>A
NM_001322879.1:c.39+168081C>A	NP_001309808.1:n.39+168081C>A
NM_001322880.1:c.39+168081C>A	NP_001309809.1:n.39+168081C>A
NM_001322881.1:c.-90+168081C>A	NP_001309810.1:n.-90+168081C>A
NM_139167.3:c.39+168081C>A	NP_631906.2:n.39+168081C>A
NM_139167.4:c.39+168081C>A MANE Select	NP_631906.2:n.39+168081C>A
NM_001322879.2:c.39+168081C>A	NP_001309808.1:n.39+168081C>A
NM_001322880.2:c.39+168081C>A	NP_001309809.1:n.39+168081C>A
NM_001322881.2:c.-90+168081C>A	NP_001309810.1:n.-90+168081C>A