Canonical Allele Identifier: CA890800826
Gene: TBX19 HGNC NCBI

Linked Data

dbSNP Id: rs372259605
gnomAD v3: 1-168293519-C-G
gnomAD v4: 1-168293519-C-G
MyVariant Identifiers: chr1:g.168262757C>G (hg19) chr1:g.168293519C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.168293519C>G , CM000663.2:g.168293519C>G GRCh38
NC_000001.10:g.168262757C>G , CM000663.1:g.168262757C>G GRCh37
NC_000001.9:g.166529381C>G NCBI36
NG_008244.1:g.17480C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000367821.8:c.603+241C>G MANE Select ENSP00000356795.3:n.603+241C>G
ENST00000367821.7:c.603+241C>G ENSP00000356795.3:n.603+241C>G
ENST00000431969.5:c.400+241C>G
NM_005149.2:c.603+241C>G NP_005140.1:n.603+241C>G
NM_005149.3:c.603+241C>G MANE Select NP_005140.1:n.603+241C>G
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