Canonical Allele Identifier: CA1230502
Gene: TBX19 HGNC NCBI

Linked Data

dbSNP Id: rs370440834
ExAC: 1:168262339 G / C
gnomAD v2: 1-168262339-G-C
gnomAD v3: 1-168293101-G-C
gnomAD v4: 1-168293101-G-C
MyVariant Identifiers: chr1:g.168262339G>C (hg19) chr1:g.168293101G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.168293101G>C , CM000663.2:g.168293101G>C GRCh38
NC_000001.10:g.168262339G>C , CM000663.1:g.168262339G>C GRCh37
NC_000001.9:g.166528963G>C NCBI36
NG_008244.1:g.17062G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000367821.8:c.469-43G>C MANE Select ENSP00000356795.3:n.469-43G>C
ENST00000367821.7:c.469-43G>C ENSP00000356795.3:n.469-43G>C
ENST00000431969.5:c.266-43G>C
NM_005149.2:c.469-43G>C NP_005140.1:n.469-43G>C
NM_005149.3:c.469-43G>C MANE Select NP_005140.1:n.469-43G>C
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