Canonical Allele Identifier: CA500652445

Gene: TBX21

Linked Data

• gnomAD v4: 17-47733853-G-T
• MyVariant Identifiers: chr17:g.45811219G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47733853G>T , CM000679.2:g.47733853G>T	GRCh38
NC_000017.10:g.45811219G>T , CM000679.1:g.45811219G>T	GRCh37
NC_000017.9:g.43166218G>T	NCBI36
NG_012166.1:g.5610G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000177694.2:c.399G>T MANE Select	ENSP00000177694.1:p.Val133=
ENST00000177694.1:c.399G>T	ENSP00000177694.1:p.Val133=
ENST00000581328.1:n.429G>T
NM_013351.1:c.399G>T	NP_037483.1:p.Val133=
XM_011524698.1:c.399G>T	XP_011523000.1:p.Val133=
NM_013351.2:c.399G>T MANE Select	NP_037483.1:p.Val133=