Canonical Allele Identifier: CA421716410
Gene: TBX19 HGNC NCBI

Linked Data

ClinVar Variation Id: 2877656
ClinVar RCV Id: RCV003715042
gnomAD v4: 1-168293242-C-G
MyVariant Identifiers: chr1:g.168262480C>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.168293242C>G , CM000663.2:g.168293242C>G GRCh38
NC_000001.10:g.168262480C>G , CM000663.1:g.168262480C>G GRCh37
NC_000001.9:g.166529104C>G NCBI36
NG_008244.1:g.17203C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000367821.8:c.567C>G MANE Select ENSP00000356795.3:p.Thr189=
ENST00000367821.7:c.567C>G ENSP00000356795.3:p.Thr189=
ENST00000431969.5:c.364C>G
NM_005149.2:c.567C>G NP_005140.1:p.Thr189=
NM_005149.3:c.567C>G MANE Select NP_005140.1:p.Thr189=
Search 100 bp 5'
Search 100 bp 3'