Canonical Allele Identifier: CA527130763
Gene: TBX19 HGNC NCBI

Linked Data

dbSNP Id: rs1558191107
gnomAD v2: 1-168262529-G-GTGTT
gnomAD v3: 1-168293291-G-GTGTT
gnomAD v4: 1-168293291-G-GTGTT
MyVariant Identifiers: chr1:g.168262529_168262530insTGTT (hg19) chr1:g.168293291_168293292insTGTT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.168293294_168293295insTTGT , CM000663.2:g.168293294_168293295insTTGT GRCh38
NC_000001.10:g.168262532_168262533insTTGT , CM000663.1:g.168262532_168262533insTTGT GRCh37
NC_000001.9:g.166529156_166529157insTTGT NCBI36
NG_008244.1:g.17255_17256insTTGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000367821.8:c.603+16_603+17insTTGT MANE Select ENSP00000356795.3:n.603+16_603+17insTTGT
ENST00000367821.7:c.603+16_603+17insTTGT ENSP00000356795.3:n.603+16_603+17insTTGT
ENST00000431969.5:c.400+16_400+17insTTGT
NM_005149.2:c.603+16_603+17insTTGT NP_005140.1:n.603+16_603+17insTTGT
NM_005149.3:c.603+16_603+17insTTGT MANE Select NP_005140.1:n.603+16_603+17insTTGT
Search 100 bp 5'
Search 100 bp 3'