Canonical Allele Identifier: CA232005980
Gene: TSPAN9 HGNC NCBI

Linked Data

dbSNP Id: rs138537745
gnomAD v2: 12-3218391-C-T
gnomAD v3: 12-3109225-C-T
gnomAD v4: 12-3109225-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.3109225C>T , CM000674.2:g.3109225C>T GRCh38
NC_000012.11:g.3218391C>T , CM000674.1:g.3218391C>T GRCh37
NC_000012.10:g.3088652C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000011898.10:c.-18+25506C>T MANE Select ENSP00000011898.5:n.-18+25506C>T
ENST00000649909.1:c.-130+25506C>T ENSP00000497370.1:n.-130+25506C>T
ENST00000011898.9:c.-18+25506C>T ENSP00000011898.5:n.-18+25506C>T
ENST00000444315.6:c.-18+25506C>T ENSP00000412908.2:n.-18+25506C>T
ENST00000537971.5:c.-18+31772C>T ENSP00000444799.1:n.-18+31772C>T
NM_001168320.1:c.-18+31772C>T NP_001161792.1:n.-18+31772C>T
NM_006675.4:c.-18+25506C>T NP_006666.1:n.-18+25506C>T
XM_011520912.1:c.-349+25506C>T XP_011519214.1:n.-349+25506C>T
XM_011520912.3:c.-349+25506C>T XP_011519214.1:n.-349+25506C>T
NM_006675.5:c.-18+25506C>T MANE Select NP_006666.1:n.-18+25506C>T
NM_001168320.2:c.-18+31772C>T NP_001161792.1:n.-18+31772C>T