Canonical Allele Identifier: CA2665603994
Gene: SHISA5 HGNC NCBI

Linked Data

gnomAD v4: 3-48467814-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.48467814G>A , CM000665.2:g.48467814G>A GRCh38
NC_000003.11:g.48509213G>A , CM000665.1:g.48509213G>A GRCh37
NC_000003.10:g.48484217G>A NCBI36
NG_009820.1:g.6985G>A
NG_033100.1:g.38047C>T
NG_009820.2:g.6985G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000296444.6:c.*1293C>T ENSP00000296444.2:n.*1293C>T
ENST00000619810.4:c.*1293C>T ENSP00000484992.1:n.*1293C>T
NM_001272065.1:c.*1293C>T NP_001258994.1:n.*1293C>T
NM_001272066.1:c.*1293C>T NP_001258995.1:n.*1293C>T
NM_001272067.1:c.*1293C>T NP_001258996.1:n.*1293C>T
NM_001272068.1:c.*1293C>T NP_001258997.1:n.*1293C>T
NM_001272082.1:c.*1293C>T NP_001259011.1:n.*1293C>T
NM_001272083.1:c.*1524C>T NP_001259012.1:n.*1524C>T
NM_016479.4:c.*1293C>T NP_057563.3:n.*1293C>T
NM_001272082.2:c.*1293C>T NP_001259011.1:n.*1293C>T
NM_001272083.2:c.*1524C>T NP_001259012.1:n.*1524C>T