Canonical Allele Identifier: CA343106919
Gene: TBX19 HGNC NCBI

Linked Data

gnomAD v4: 1-168293180-G-T
MyVariant Identifiers: chr1:g.168262418G>T (hg19) chr1:g.168293180G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.168293180G>T , CM000663.2:g.168293180G>T GRCh38
NC_000001.10:g.168262418G>T , CM000663.1:g.168262418G>T GRCh37
NC_000001.9:g.166529042G>T NCBI36
NG_008244.1:g.17141G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000367821.8:c.505G>T MANE Select ENSP00000356795.3:p.Val169Phe
ENST00000367821.7:c.505G>T ENSP00000356795.3:p.Val169Phe
ENST00000431969.5:c.302G>T
NM_005149.2:c.505G>T NP_005140.1:p.Val169Phe
NM_005149.3:c.505G>T MANE Select NP_005140.1:p.Val169Phe
Search 100 bp 5'
Search 100 bp 3'