Canonical Allele Identifier: CA1230509

Gene: TBX19

Linked Data

• dbSNP Id: rs772658599
• ExAC: 1:168262377 G / A
• gnomAD v2: 1-168262377-G-A
• gnomAD v4: 1-168293139-G-A
• MyVariant Identifiers: chr1:g.168262377G>A (hg19) ; chr1:g.168293139G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.168293139G>A , CM000663.2:g.168293139G>A	GRCh38
NC_000001.10:g.168262377G>A , CM000663.1:g.168262377G>A	GRCh37
NC_000001.9:g.166529001G>A	NCBI36
NG_008244.1:g.17100G>A

Transcript Alleles

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