Canonical Allele Identifier: CA1230447
Gene: TBX19 HGNC NCBI

Linked Data

ClinVar Variation Id: 2979522
ClinVar RCV Id: RCV003834632
dbSNP Id: rs376338008
ExAC: 1:168260455 C / T
gnomAD v2: 1-168260455-C-T
gnomAD v4: 1-168291217-C-T
MyVariant Identifiers: chr1:g.168260455C>T (hg19) chr1:g.168291217C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.168291217C>T , CM000663.2:g.168291217C>T GRCh38
NC_000001.10:g.168260455C>T , CM000663.1:g.168260455C>T GRCh37
NC_000001.9:g.166527079C>T NCBI36
NG_008244.1:g.15178C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000367821.8:c.261C>T MANE Select ENSP00000356795.3:p.Tyr87=
ENST00000367821.7:c.261C>T ENSP00000356795.3:p.Tyr87=
ENST00000431969.5:c.58C>T
NM_005149.2:c.261C>T NP_005140.1:p.Tyr87=
NM_005149.3:c.261C>T MANE Select NP_005140.1:p.Tyr87=
Search 100 bp 5'
Search 100 bp 3'