Canonical Allele Identifier: CA52563964
Gene: ZAP70 HGNC NCBI

Linked Data

dbSNP Id: rs542619486
gnomAD v3: 2-97737482-C-T
gnomAD v4: 2-97737482-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.97737482C>T , CM000664.2:g.97737482C>T GRCh38
NC_000002.11:g.98353945C>T , CM000664.1:g.98353945C>T GRCh37
NC_000002.10:g.97720377C>T NCBI36
NG_007727.1:g.28915C>T , LRG_126:g.28915C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000698508.1:c.1299C>T ENSP00000513759.1:p.Ile433=
ENST00000698509.1:n.1439C>T
ENST00000264972.10:c.1299C>T MANE Select ENSP00000264972.5:p.Ile433=
ENST00000264972.9:c.1299C>T ENSP00000264972.5:p.Ile433=
ENST00000451498.2:c.378C>T ENSP00000400475.2:p.Ile126=
ENST00000463643.5:n.1160C>T
ENST00000487283.5:n.2351C>T
ENST00000495754.1:n.237C>T
NM_001079.3:c.1299C>T , LRG_126t1:c.1299C>T NP_001070.2:p.Ile433=
NM_207519.1:c.378C>T NP_997402.1:p.Ile126=
XM_005264015.3:c.1281C>T XP_005264072.1:p.Ile427=
XM_006712728.2:c.1299C>T XP_006712791.1:p.Ile433=
XM_011511783.1:c.1299C>T XP_011510085.1:p.Ile433=
XR_923018.1:n.1501C>T
XR_923019.1:n.1501C>T
XR_923020.1:n.1501C>T
XM_017004867.1:c.1668C>T XP_016860356.1:p.Ile556=
XM_017004868.1:c.1650C>T XP_016860357.1:p.Ile550=
XM_017004869.1:c.1668C>T XP_016860358.1:p.Ile556=
XM_017004870.1:c.1668C>T XP_016860359.1:p.Ile556=
XR_001738925.1:n.2907C>T
XR_001738926.1:n.2907C>T
XR_001738927.1:n.2907C>T
NM_001079.4:c.1299C>T MANE Select NP_001070.2:p.Ile433=
NM_001378594.1:c.1299C>T NP_001365523.1:p.Ile433=
NM_207519.2:c.378C>T NP_997402.1:p.Ile126=