Canonical Allele Identifier: CA638504306
Gene: TBX1 HGNC NCBI
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19766379C>T , CM000684.2:g.19766379C>T GRCh38
NC_000022.10:g.19753902C>T , CM000684.1:g.19753902C>T GRCh37
NC_000022.9:g.18133902C>T NCBI36
NG_009229.1:g.14677C>T , LRG_226:g.14677C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000649276.2:c.1037-10C>T MANE Select ENSP00000497003.1:n.1037-10C>T
ENST00000329705.11:c.1009+377C>T ENSP00000331176.7:n.1009+377C>T
ENST00000332710.8:c.1010-10C>T ENSP00000331791.4:n.1010-10C>T
ENST00000359500.7:c.1009+377C>T ENSP00000352483.3:n.1009+377C>T
ENST00000621939.1:c.1009+377C>T ENSP00000477982.1:n.1009+377C>T
NM_005992.1:c.1009+377C>T NP_005983.1:n.1009+377C>T
NM_080646.1:c.1009+377C>T NP_542377.1:n.1009+377C>T
NM_080647.1:c.1010-10C>T , LRG_226t1:c.1010-10C>T NP_542378.1:n.1010-10C>T
XM_006724312.1:c.1010-10C>T XP_006724375.1:n.1010-10C>T
XM_011530351.1:c.1037-10C>T XP_011528653.1:n.1037-10C>T
XM_006724312.2:c.1010-10C>T XP_006724375.1:n.1010-10C>T
XM_017028925.1:c.1160-10C>T XP_016884414.1:n.1160-10C>T
XM_017028926.1:c.1010-10C>T XP_016884415.1:n.1010-10C>T
XM_017028927.1:c.365-10C>T XP_016884416.1:n.365-10C>T
XM_017028928.1:c.1159+377C>T XP_016884417.1:n.1159+377C>T
NM_001379200.1:c.1037-10C>T MANE Select NP_001366129.1:n.1037-10C>T
NM_080646.2:c.1009+377C>T NP_542377.1:n.1009+377C>T