Canonical Allele Identifier: CA890799962
Gene: TBX19 HGNC NCBI

Linked Data

dbSNP Id: rs1455714473
gnomAD v3: 1-168293012-C-T
gnomAD v4: 1-168293012-C-T
MyVariant Identifiers: chr1:g.168262250C>T (hg19) chr1:g.168293012C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.168293012C>T , CM000663.2:g.168293012C>T GRCh38
NC_000001.10:g.168262250C>T , CM000663.1:g.168262250C>T GRCh37
NC_000001.9:g.166528874C>T NCBI36
NG_008244.1:g.16973C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000367821.8:c.469-132C>T MANE Select ENSP00000356795.3:n.469-132C>T
ENST00000367821.7:c.469-132C>T ENSP00000356795.3:n.469-132C>T
ENST00000431969.5:c.266-132C>T
NM_005149.2:c.469-132C>T NP_005140.1:n.469-132C>T
NM_005149.3:c.469-132C>T MANE Select NP_005140.1:n.469-132C>T
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