Canonical Allele Identifier: CA543045070

Gene: SHISA5

Linked Data

• dbSNP Id: rs1421589065
• gnomAD v2: 3-48509206-A-G
• gnomAD v3: 3-48467807-A-G
• gnomAD v4: 3-48467807-A-G
• MyVariant Identifiers: chr3:g.48509206A>G (hg19) ; chr3:g.48467807A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48467807A>G , CM000665.2:g.48467807A>G	GRCh38
NC_000003.11:g.48509206A>G , CM000665.1:g.48509206A>G	GRCh37
NC_000003.10:g.48484210A>G	NCBI36
NG_009820.1:g.6978A>G
NG_033100.1:g.38054T>C
NG_009820.2:g.6978A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296444.6:c.*1300T>C	ENSP00000296444.2:n.*1300T>C
ENST00000619810.4:c.*1300T>C	ENSP00000484992.1:n.*1300T>C
NM_001272065.1:c.*1300T>C	NP_001258994.1:n.*1300T>C
NM_001272066.1:c.*1300T>C	NP_001258995.1:n.*1300T>C
NM_001272067.1:c.*1300T>C	NP_001258996.1:n.*1300T>C
NM_001272068.1:c.*1300T>C	NP_001258997.1:n.*1300T>C
NM_001272082.1:c.*1300T>C	NP_001259011.1:n.*1300T>C
NM_001272083.1:c.*1531T>C	NP_001259012.1:n.*1531T>C
NM_016479.4:c.*1300T>C	NP_057563.3:n.*1300T>C