Canonical Allele Identifier: CA1230428
Gene: TBX19 HGNC NCBI

Linked Data

dbSNP Id: rs536929480
ExAC: 1:168260350 G / A
gnomAD v2: 1-168260350-G-A
gnomAD v4: 1-168291112-G-A
MyVariant Identifiers: chr1:g.168260350G>A (hg19) chr1:g.168291112G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.168291112G>A , CM000663.2:g.168291112G>A GRCh38
NC_000001.10:g.168260350G>A , CM000663.1:g.168260350G>A GRCh37
NC_000001.9:g.166526974G>A NCBI36
NG_008244.1:g.15073G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000367821.8:c.204-48G>A MANE Select ENSP00000356795.3:n.204-48G>A
ENST00000367821.7:c.204-48G>A ENSP00000356795.3:n.204-48G>A
NM_005149.2:c.204-48G>A NP_005140.1:n.204-48G>A
NM_005149.3:c.204-48G>A MANE Select NP_005140.1:n.204-48G>A
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