Canonical Allele Identifier: CA232006118
Gene: TSPAN9 HGNC NCBI

Linked Data

dbSNP Id: rs375724845
gnomAD v2: 12-3218701-T-C
gnomAD v3: 12-3109535-T-C
gnomAD v4: 12-3109535-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.3109535T>C , CM000674.2:g.3109535T>C GRCh38
NC_000012.11:g.3218701T>C , CM000674.1:g.3218701T>C GRCh37
NC_000012.10:g.3088962T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000011898.10:c.-18+25816T>C MANE Select ENSP00000011898.5:n.-18+25816T>C
ENST00000649909.1:c.-130+25816T>C ENSP00000497370.1:n.-130+25816T>C
ENST00000011898.9:c.-18+25816T>C ENSP00000011898.5:n.-18+25816T>C
ENST00000444315.6:c.-18+25816T>C ENSP00000412908.2:n.-18+25816T>C
ENST00000537971.5:c.-18+32082T>C ENSP00000444799.1:n.-18+32082T>C
NM_001168320.1:c.-18+32082T>C NP_001161792.1:n.-18+32082T>C
NM_006675.4:c.-18+25816T>C NP_006666.1:n.-18+25816T>C
XM_011520912.1:c.-349+25816T>C XP_011519214.1:n.-349+25816T>C
XM_011520912.3:c.-349+25816T>C XP_011519214.1:n.-349+25816T>C
NM_006675.5:c.-18+25816T>C MANE Select NP_006666.1:n.-18+25816T>C
NM_001168320.2:c.-18+32082T>C NP_001161792.1:n.-18+32082T>C