Canonical Allele Identifier: CA1230501
Gene: TBX19 HGNC NCBI

Linked Data

dbSNP Id: rs56064910
ExAC: 1:168262338 C / T
gnomAD v2: 1-168262338-C-T
gnomAD v3: 1-168293100-C-T
gnomAD v4: 1-168293100-C-T
MyVariant Identifiers: chr1:g.168262338C>T (hg19) chr1:g.168293100C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.168293100C>T , CM000663.2:g.168293100C>T GRCh38
NC_000001.10:g.168262338C>T , CM000663.1:g.168262338C>T GRCh37
NC_000001.9:g.166528962C>T NCBI36
NG_008244.1:g.17061C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000367821.8:c.469-44C>T MANE Select ENSP00000356795.3:n.469-44C>T
ENST00000367821.7:c.469-44C>T ENSP00000356795.3:n.469-44C>T
ENST00000431969.5:c.266-44C>T
NM_005149.2:c.469-44C>T NP_005140.1:n.469-44C>T
NM_005149.3:c.469-44C>T MANE Select NP_005140.1:n.469-44C>T
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