Canonical Allele Identifier: CA343105754
Gene: TBX19 HGNC NCBI

Linked Data

dbSNP Id: rs1342215594
gnomAD v4: 1-168291214-G-T
MyVariant Identifiers: chr1:g.168260452G>T (hg19) chr1:g.168291214G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.168291214G>T , CM000663.2:g.168291214G>T GRCh38
NC_000001.10:g.168260452G>T , CM000663.1:g.168260452G>T GRCh37
NC_000001.9:g.166527076G>T NCBI36
NG_008244.1:g.15175G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000367821.8:c.258G>T MANE Select ENSP00000356795.3:p.Met86Ile
ENST00000367821.7:c.258G>T ENSP00000356795.3:p.Met86Ile
ENST00000431969.5:c.55G>T
NM_005149.2:c.258G>T NP_005140.1:p.Met86Ile
NM_005149.3:c.258G>T MANE Select NP_005140.1:p.Met86Ile
Search 100 bp 5'
Search 100 bp 3'