Canonical Allele Identifier: CA1230436
Gene: TBX19 HGNC NCBI

Linked Data

dbSNP Id: rs780569168
ExAC: 1:168260392 T / C
gnomAD v2: 1-168260392-T-C
gnomAD v4: 1-168291154-T-C
MyVariant Identifiers: chr1:g.168260392T>C (hg19) chr1:g.168291154T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.168291154T>C , CM000663.2:g.168291154T>C GRCh38
NC_000001.10:g.168260392T>C , CM000663.1:g.168260392T>C GRCh37
NC_000001.9:g.166527016T>C NCBI36
NG_008244.1:g.15115T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000367821.8:c.204-6T>C MANE Select ENSP00000356795.3:n.204-6T>C
ENST00000367821.7:c.204-6T>C ENSP00000356795.3:n.204-6T>C
NM_005149.2:c.204-6T>C NP_005140.1:n.204-6T>C
NM_005149.3:c.204-6T>C MANE Select NP_005140.1:n.204-6T>C
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