Canonical Allele Identifier: CA31493736
Gene: TBX19 HGNC NCBI

Linked Data

dbSNP Id: rs115779129
gnomAD v2: 1-168262747-C-T
gnomAD v3: 1-168293509-C-T
gnomAD v4: 1-168293509-C-T
MyVariant Identifiers: chr1:g.168262747C>T (hg19) chr1:g.168293509C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.168293509C>T , CM000663.2:g.168293509C>T GRCh38
NC_000001.10:g.168262747C>T , CM000663.1:g.168262747C>T GRCh37
NC_000001.9:g.166529371C>T NCBI36
NG_008244.1:g.17470C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000367821.8:c.603+231C>T MANE Select ENSP00000356795.3:n.603+231C>T
ENST00000367821.7:c.603+231C>T ENSP00000356795.3:n.603+231C>T
ENST00000431969.5:c.400+231C>T
NM_005149.2:c.603+231C>T NP_005140.1:n.603+231C>T
NM_005149.3:c.603+231C>T MANE Select NP_005140.1:n.603+231C>T
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