Canonical Allele Identifier: CA14436277
Gene: TBX21 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.47745669G>A
GRCh37 chr17:g.45823035G>A
gnomAD v2:
17:45823035 G / A
gnomAD v3:
17:47745669 G / A
gnomAD v4:
chr17-47745669-G-A
Joint Max Group AF 0.19036687 (SAS)
Genomes Max Group AF 0.19526083 (SAS)
Exomes Max Group AF 0.18431422 (SAS)
dbSNP:
17244587
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.47745669G>A , CM000679.2:g.47745669G>A GRCh38
NC_000017.10:g.45823035G>A , CM000679.1:g.45823035G>A GRCh37
NC_000017.9:g.43178034G>A NCBI36
NG_012166.1:g.17426G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000177694.2:c.*303G>A MANE Select ENSP00000177694.1:n.*303G>A
ENST00000177694.1:c.*303G>A ENSP00000177694.1:n.*303G>A
NM_013351.1:c.*303G>A NP_037483.1:n.*303G>A
XM_011524698.1:c.*303G>A XP_011523000.1:n.*303G>A
XM_011524699.1:c.*303G>A XP_011523001.1:n.*303G>A
NM_013351.2:c.*303G>A MANE Select NP_037483.1:n.*303G>A
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