Canonical Allele Identifier: CA343107133
Gene: TBX19 HGNC NCBI

Linked Data

gnomAD v3: 1-168293277-A-G
gnomAD v4: 1-168293277-A-G
MyVariant Identifiers: chr1:g.168262515A>G (hg19) chr1:g.168293277A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.168293277A>G , CM000663.2:g.168293277A>G GRCh38
NC_000001.10:g.168262515A>G , CM000663.1:g.168262515A>G GRCh37
NC_000001.9:g.166529139A>G NCBI36
NG_008244.1:g.17238A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000367821.8:c.602A>G MANE Select ENSP00000356795.3:p.Glu201Gly
ENST00000367821.7:c.602A>G ENSP00000356795.3:p.Glu201Gly
ENST00000431969.5:c.399A>G
NM_005149.2:c.602A>G NP_005140.1:p.Glu201Gly
NM_005149.3:c.602A>G MANE Select NP_005140.1:p.Glu201Gly
Search 100 bp 5'
Search 100 bp 3'