Canonical Allele Identifier: CA343106905

Gene: TBX19

Linked Data

• MyVariant Identifiers: chr1:g.168262412C>G (hg19) ; chr1:g.168293174C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.168293174C>G , CM000663.2:g.168293174C>G	GRCh38
NC_000001.10:g.168262412C>G , CM000663.1:g.168262412C>G	GRCh37
NC_000001.9:g.166529036C>G	NCBI36
NG_008244.1:g.17135C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367821.8:c.499C>G MANE Select	ENSP00000356795.3:p.Pro167Ala
ENST00000367821.7:c.499C>G	ENSP00000356795.3:p.Pro167Ala
ENST00000431969.5:c.296C>G
NM_005149.2:c.499C>G	NP_005140.1:p.Pro167Ala
NM_005149.3:c.499C>G MANE Select	NP_005140.1:p.Pro167Ala