Canonical Allele Identifier: CA421716376
Gene: TBX19 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.168262429G>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.168293191G>C , CM000663.2:g.168293191G>C GRCh38
NC_000001.10:g.168262429G>C , CM000663.1:g.168262429G>C GRCh37
NC_000001.9:g.166529053G>C NCBI36
NG_008244.1:g.17152G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000367821.8:c.516G>C MANE Select ENSP00000356795.3:p.Val172=
ENST00000367821.7:c.516G>C ENSP00000356795.3:p.Val172=
ENST00000431969.5:c.313G>C
NM_005149.2:c.516G>C NP_005140.1:p.Val172=
NM_005149.3:c.516G>C MANE Select NP_005140.1:p.Val172=
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