Canonical Allele Identifier: CA1230508

Gene: TBX19

Linked Data

• dbSNP Id: rs372128484
• ExAC: 1:168262375 T / A
• gnomAD v2: 1-168262375-T-A
• gnomAD v3: 1-168293137-T-A
• gnomAD v4: 1-168293137-T-A
• MyVariant Identifiers: chr1:g.168262375T>A (hg19) ; chr1:g.168293137T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.168293137T>A , CM000663.2:g.168293137T>A	GRCh38
NC_000001.10:g.168262375T>A , CM000663.1:g.168262375T>A	GRCh37
NC_000001.9:g.166528999T>A	NCBI36
NG_008244.1:g.17098T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000367821.8:c.469-7T>A MANE Select	ENSP00000356795.3:n.469-7T>A
ENST00000367821.7:c.469-7T>A	ENSP00000356795.3:n.469-7T>A
ENST00000431969.5:c.266-7T>A
NM_005149.2:c.469-7T>A	NP_005140.1:n.469-7T>A
NM_005149.3:c.469-7T>A MANE Select	NP_005140.1:n.469-7T>A