Canonical Allele Identifier: CA73933668

Gene: SHISA5

Linked Data

• dbSNP Id: rs3135949
• gnomAD v2: 3-48509210-G-A
• gnomAD v3: 3-48467811-G-A
• gnomAD v4: 3-48467811-G-A
• MyVariant Identifiers: chr3:g.48509210G>A (hg19) ; chr3:g.48467811G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48467811G>A , CM000665.2:g.48467811G>A	GRCh38
NC_000003.11:g.48509210G>A , CM000665.1:g.48509210G>A	GRCh37
NC_000003.10:g.48484214G>A	NCBI36
NG_009820.1:g.6982G>A
NG_033100.1:g.38050C>T
NG_009820.2:g.6982G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296444.6:c.*1296C>T	ENSP00000296444.2:n.*1296C>T
ENST00000619810.4:c.*1296C>T	ENSP00000484992.1:n.*1296C>T
NM_001272065.1:c.*1296C>T	NP_001258994.1:n.*1296C>T
NM_001272066.1:c.*1296C>T	NP_001258995.1:n.*1296C>T
NM_001272067.1:c.*1296C>T	NP_001258996.1:n.*1296C>T
NM_001272068.1:c.*1296C>T	NP_001258997.1:n.*1296C>T
NM_001272082.1:c.*1296C>T	NP_001259011.1:n.*1296C>T
NM_001272083.1:c.*1527C>T	NP_001259012.1:n.*1527C>T
NM_016479.4:c.*1296C>T	NP_057563.3:n.*1296C>T
NM_001272082.2:c.*1296C>T	NP_001259011.1:n.*1296C>T
NM_001272083.2:c.*1527C>T	NP_001259012.1:n.*1527C>T