Canonical Allele Identifier: CA526699153
Gene: TBX19 HGNC NCBI

Linked Data

dbSNP Id: rs1443627938
gnomAD v2: 1-168262800-T-G
gnomAD v3: 1-168293562-T-G
gnomAD v4: 1-168293562-T-G
MyVariant Identifiers: chr1:g.168262800T>G (hg19) chr1:g.168293562T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.168293562T>G , CM000663.2:g.168293562T>G GRCh38
NC_000001.10:g.168262800T>G , CM000663.1:g.168262800T>G GRCh37
NC_000001.9:g.166529424T>G NCBI36
NG_008244.1:g.17523T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000367821.8:c.603+284T>G MANE Select ENSP00000356795.3:n.603+284T>G
ENST00000367821.7:c.603+284T>G ENSP00000356795.3:n.603+284T>G
ENST00000431969.5:c.400+284T>G
NM_005149.2:c.603+284T>G NP_005140.1:n.603+284T>G
NM_005149.3:c.603+284T>G MANE Select NP_005140.1:n.603+284T>G
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