Canonical Allele Identifier: CA343107038
Gene: TBX19 HGNC NCBI

Linked Data

ClinVar Variation Id: 560674
ClinVar RCV Id: RCV000678896
dbSNP Id: rs1159356681
gnomAD v2: 1-168262475-G-A
gnomAD v4: 1-168293237-G-A
MyVariant Identifiers: chr1:g.168262475G>A (hg19) chr1:g.168293237G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.168293237G>A , CM000663.2:g.168293237G>A GRCh38
NC_000001.10:g.168262475G>A , CM000663.1:g.168262475G>A GRCh37
NC_000001.9:g.166529099G>A NCBI36
NG_008244.1:g.17198G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000367821.8:c.562G>A MANE Select ENSP00000356795.3:p.Glu188Lys
ENST00000367821.7:c.562G>A ENSP00000356795.3:p.Glu188Lys
ENST00000431969.5:c.359G>A
NM_005149.2:c.562G>A NP_005140.1:p.Glu188Lys
NM_005149.3:c.562G>A MANE Select NP_005140.1:p.Glu188Lys
Search 100 bp 5'
Search 100 bp 3'