Canonical Allele Identifier: CA2665603947
Gene: SHISA5 HGNC NCBI

Linked Data

gnomAD v4: 3-48467803-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.48467803C>T , CM000665.2:g.48467803C>T GRCh38
NC_000003.11:g.48509202C>T , CM000665.1:g.48509202C>T GRCh37
NC_000003.10:g.48484206C>T NCBI36
NG_009820.1:g.6974C>T
NG_033100.1:g.38058G>A
NG_009820.2:g.6974C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000296444.6:c.*1304G>A ENSP00000296444.2:n.*1304G>A
ENST00000619810.4:c.*1304G>A ENSP00000484992.1:n.*1304G>A
NM_001272065.1:c.*1304G>A NP_001258994.1:n.*1304G>A
NM_001272066.1:c.*1304G>A NP_001258995.1:n.*1304G>A
NM_001272067.1:c.*1304G>A NP_001258996.1:n.*1304G>A
NM_001272068.1:c.*1304G>A NP_001258997.1:n.*1304G>A
NM_001272082.1:c.*1304G>A NP_001259011.1:n.*1304G>A
NM_001272083.1:c.*1535G>A NP_001259012.1:n.*1535G>A
NM_016479.4:c.*1304G>A NP_057563.3:n.*1304G>A