Canonical Allele Identifier: CA343105801
Gene: TBX19 HGNC NCBI

Linked Data

dbSNP Id: rs1365741516
gnomAD v4: 1-168291221-C-T
COSMIC: COSM463353
MyVariant Identifiers: chr1:g.168260459C>T (hg19) chr1:g.168291221C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.168291221C>T , CM000663.2:g.168291221C>T GRCh38
NC_000001.10:g.168260459C>T , CM000663.1:g.168260459C>T GRCh37
NC_000001.9:g.166527083C>T NCBI36
NG_008244.1:g.15182C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000367821.8:c.265C>T MANE Select ENSP00000356795.3:p.Leu89Phe
ENST00000367821.7:c.265C>T ENSP00000356795.3:p.Leu89Phe
ENST00000431969.5:c.62C>T
NM_005149.2:c.265C>T NP_005140.1:p.Leu89Phe
NM_005149.3:c.265C>T MANE Select NP_005140.1:p.Leu89Phe
Search 100 bp 5'
Search 100 bp 3'