Canonical Allele Identifier: CA2665603992

Gene: SHISA5

Linked Data

• gnomAD v4: 3-48467813-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48467813T>C , CM000665.2:g.48467813T>C	GRCh38
NC_000003.11:g.48509212T>C , CM000665.1:g.48509212T>C	GRCh37
NC_000003.10:g.48484216T>C	NCBI36
NG_009820.1:g.6984T>C
NG_033100.1:g.38048A>G
NG_009820.2:g.6984T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296444.6:c.*1294A>G	ENSP00000296444.2:n.*1294A>G
ENST00000619810.4:c.*1294A>G	ENSP00000484992.1:n.*1294A>G
NM_001272065.1:c.*1294A>G	NP_001258994.1:n.*1294A>G
NM_001272066.1:c.*1294A>G	NP_001258995.1:n.*1294A>G
NM_001272067.1:c.*1294A>G	NP_001258996.1:n.*1294A>G
NM_001272068.1:c.*1294A>G	NP_001258997.1:n.*1294A>G
NM_001272082.1:c.*1294A>G	NP_001259011.1:n.*1294A>G
NM_001272083.1:c.*1525A>G	NP_001259012.1:n.*1525A>G
NM_016479.4:c.*1294A>G	NP_057563.3:n.*1294A>G
NM_001272082.2:c.*1294A>G	NP_001259011.1:n.*1294A>G
NM_001272083.2:c.*1525A>G	NP_001259012.1:n.*1525A>G