Canonical Allele Identifier: CA421715204
Gene: TBX19 HGNC NCBI

Linked Data

dbSNP Id: rs1457045459
gnomAD v3: 1-168291226-G-A
gnomAD v4: 1-168291226-G-A
MyVariant Identifiers: chr1:g.168260464G>A (hg19) chr1:g.168291226G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.168291226G>A , CM000663.2:g.168291226G>A GRCh38
NC_000001.10:g.168260464G>A , CM000663.1:g.168260464G>A GRCh37
NC_000001.9:g.166527088G>A NCBI36
NG_008244.1:g.15187G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000367821.8:c.270G>A MANE Select ENSP00000356795.3:p.Leu90=
ENST00000367821.7:c.270G>A ENSP00000356795.3:p.Leu90=
ENST00000431969.5:c.67G>A
NM_005149.2:c.270G>A NP_005140.1:p.Leu90=
NM_005149.3:c.270G>A MANE Select NP_005140.1:p.Leu90=
Search 100 bp 5'
Search 100 bp 3'