Canonical Allele Identifier: CA343106945
Gene: TBX19 HGNC NCBI

Linked Data

dbSNP Id: rs763177941
gnomAD v3: 1-168293193-G-T
gnomAD v4: 1-168293193-G-T
MyVariant Identifiers: chr1:g.168262431G>T (hg19) chr1:g.168293193G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.168293193G>T , CM000663.2:g.168293193G>T GRCh38
NC_000001.10:g.168262431G>T , CM000663.1:g.168262431G>T GRCh37
NC_000001.9:g.166529055G>T NCBI36
NG_008244.1:g.17154G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000367821.8:c.518G>T MANE Select ENSP00000356795.3:p.Arg173Leu
ENST00000367821.7:c.518G>T ENSP00000356795.3:p.Arg173Leu
ENST00000431969.5:c.315G>T
NM_005149.2:c.518G>T NP_005140.1:p.Arg173Leu
NM_005149.3:c.518G>T MANE Select NP_005140.1:p.Arg173Leu
Search 100 bp 5'
Search 100 bp 3'