Canonical Allele Identifier: CA2608207561
Gene: GATA3 HGNC NCBI

Linked Data

gnomAD v4: 10-8073612-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.8073612C>T , CM000672.2:g.8073612C>T GRCh38
NC_000010.10:g.8115575C>T , CM000672.1:g.8115575C>T GRCh37
NC_000010.9:g.8155581C>T NCBI36
NG_015859.1:g.23909C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000346208.4:c.1048-127C>T ENSP00000341619.3:n.1048-127C>T
ENST00000379328.9:c.1051-127C>T MANE Select ENSP00000368632.3:n.1051-127C>T
ENST00000346208.3:c.1048-127C>T ENSP00000341619.3:n.1048-127C>T
ENST00000379328.7:c.1051-127C>T ENSP00000368632.3:n.1051-127C>T
ENST00000461472.1:n.570-127C>T
NM_001002295.1:c.1051-127C>T NP_001002295.1:n.1051-127C>T
NM_002051.2:c.1048-127C>T NP_002042.1:n.1048-127C>T
XM_005252442.2:c.1051-127C>T XP_005252499.1:n.1051-127C>T
XM_005252443.3:c.1051-127C>T XP_005252500.1:n.1051-127C>T
XM_005252443.5:c.1051-127C>T XP_005252500.1:n.1051-127C>T
NM_001002295.2:c.1051-127C>T MANE Select NP_001002295.1:n.1051-127C>T
NM_002051.3:c.1048-127C>T NP_002042.1:n.1048-127C>T