Canonical Allele Identifier: CA2752072
Gene: TP63 HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.189738753G>A
GRCh37 chr3:g.189456542G>A
gnomAD v2:
3:189456542 G / A
gnomAD v3:
3:189738753 G / A
gnomAD v4:
chr3-189738753-G-A
Joint Max Group AF 0.00069224 (EAS)
Genomes Max Group AF 0.00016915 (SAS)
Exomes Max Group AF 0.00076024 (EAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.189738753G>A , CM000665.2:g.189738753G>A GRCh38
NC_000003.11:g.189456542G>A , CM000665.1:g.189456542G>A GRCh37
NC_000003.10:g.190939236G>A NCBI36
NG_007550.1:g.112327G>A
NG_007550.2:g.112327G>A
NG_007550.3:g.147008G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264731.8:c.303G>A MANE Select ENSP00000264731.3:p.Ser101=
ENST00000264731.7:c.303G>A ENSP00000264731.3:p.Ser101=
ENST00000320472.9:c.303G>A ENSP00000317510.5:p.Ser101=
ENST00000392460.7:c.303G>A ENSP00000376253.3:p.Ser101=
ENST00000418709.6:c.303G>A ENSP00000407144.2:p.Ser101=
ENST00000440651.6:c.303G>A ENSP00000394337.2:p.Ser101=
ENST00000486398.1:n.403G>A
NM_001114978.1:c.303G>A NP_001108450.1:p.Ser101=
NM_001114979.1:c.303G>A NP_001108451.1:p.Ser101=
NM_003722.4:c.303G>A NP_003713.3:p.Ser101=
XM_005247843.2:c.303G>A XP_005247900.1:p.Ser101=
XM_005247844.3:c.252G>A XP_005247901.1:p.Ser84=
XM_005247846.2:c.303G>A XP_005247903.1:p.Ser101=
XM_011513251.1:c.300G>A XP_011511553.1:p.Ser100=
XM_011513252.1:c.297G>A XP_011511554.1:p.Ser99=
XM_011513253.1:c.264G>A XP_011511555.1:p.Ser88=
NM_001329144.1:c.303G>A NP_001316073.1:p.Ser101=
NM_001329148.1:c.303G>A NP_001316077.1:p.Ser101=
NM_001329964.1:c.297G>A NP_001316893.1:p.Ser99=
NM_003722.5:c.303G>A MANE Select NP_003713.3:p.Ser101=
NM_001114978.2:c.303G>A NP_001108450.1:p.Ser101=
NM_001114979.2:c.303G>A NP_001108451.1:p.Ser101=
NM_001329144.2:c.303G>A NP_001316073.1:p.Ser101=
NM_001329148.2:c.303G>A NP_001316077.1:p.Ser101=
NM_001329964.2:c.297G>A NP_001316893.1:p.Ser99=
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