Canonical Allele Identifier: CA421716425
Gene: TBX19 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.168262501C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.168293263C>G , CM000663.2:g.168293263C>G GRCh38
NC_000001.10:g.168262501C>G , CM000663.1:g.168262501C>G GRCh37
NC_000001.9:g.166529125C>G NCBI36
NG_008244.1:g.17224C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000367821.8:c.588C>G MANE Select ENSP00000356795.3:p.Ala196=
ENST00000367821.7:c.588C>G ENSP00000356795.3:p.Ala196=
ENST00000431969.5:c.385C>G
NM_005149.2:c.588C>G NP_005140.1:p.Ala196=
NM_005149.3:c.588C>G MANE Select NP_005140.1:p.Ala196=