Canonical Allele Identifier: CA386867991
Gene: TBX3 HGNC NCBI

Linked Data

dbSNP Id: rs1320834041
gnomAD v2: 12-115109936-G-A
gnomAD v3: 12-114672131-G-A
gnomAD v4: 12-114672131-G-A
MyVariant Identifiers: chr12:g.115109936G>A (hg19) chr12:g.114672131G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.114672131G>A , CM000674.2:g.114672131G>A GRCh38
NC_000012.11:g.115109936G>A , CM000674.1:g.115109936G>A GRCh37
NC_000012.10:g.113594319G>A NCBI36
NG_008315.1:g.17034C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000349155.7:c.1882C>T MANE Select ENSP00000257567.2:p.Pro628Ser
ENST00000257566.7:c.1942C>T ENSP00000257566.3:p.Pro648Ser
ENST00000349155.6:c.1882C>T ENSP00000257567.2:p.Pro628Ser
ENST00000613550.1:c.1879C>T ENSP00000480048.1:p.Pro627Ser
NM_005996.3:c.1882C>T NP_005987.3:p.Pro628Ser
NM_016569.3:c.1942C>T NP_057653.3:p.Pro648Ser
NM_005996.4:c.1882C>T MANE Select NP_005987.3:p.Pro628Ser
NM_016569.4:c.1942C>T NP_057653.3:p.Pro648Ser
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