Canonical Allele Identifier: CA250030
Gene: TBX19 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.168291339C>T
GRCh37 chr1:g.168260577C>T
Revel Score:
ENST00000367821 (MANE Select) 0.951
ENST00000367828 0.951
gnomAD v2:
1:168260577 C / T
gnomAD v4:
chr1-168291339-C-T
Joint Max Group AF 0.00000359 (NFE)
Exomes Max Group AF 0.00000381 (NFE)
ClinVar RCV:
RCV000005774
ClinVar Variation:
5441
dbSNP:
74315377
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.168291339C>T , CM000663.2:g.168291339C>T GRCh38
NC_000001.10:g.168260577C>T , CM000663.1:g.168260577C>T GRCh37
NC_000001.9:g.166527201C>T NCBI36
NG_008244.1:g.15300C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000367821.8:c.383C>T MANE Select ENSP00000356795.3:p.Ser128Phe
ENST00000367821.7:c.383C>T ENSP00000356795.3:p.Ser128Phe
ENST00000431969.5:c.180C>T
NM_005149.2:c.383C>T NP_005140.1:p.Ser128Phe
NM_005149.3:c.383C>T MANE Select NP_005140.1:p.Ser128Phe
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