Canonical Allele Identifier: CA2608207673
Gene: GATA3 HGNC NCBI

Linked Data

dbSNP Id: rs2131523802
gnomAD v4: 10-8074077-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.8074077G>A , CM000672.2:g.8074077G>A GRCh38
NC_000010.10:g.8116040G>A , CM000672.1:g.8116040G>A GRCh37
NC_000010.9:g.8156046G>A NCBI36
NG_015859.1:g.24374G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000346208.4:c.*54G>A ENSP00000341619.3:n.*54G>A
ENST00000379328.9:c.*54G>A MANE Select ENSP00000368632.3:n.*54G>A
ENST00000346208.3:c.*54G>A ENSP00000341619.3:n.*54G>A
ENST00000379328.7:c.*54G>A ENSP00000368632.3:n.*54G>A
NM_001002295.1:c.*54G>A NP_001002295.1:n.*54G>A
NM_002051.2:c.*54G>A NP_002042.1:n.*54G>A
XM_005252442.2:c.*54G>A XP_005252499.1:n.*54G>A
XM_005252443.3:c.*54G>A XP_005252500.1:n.*54G>A
XM_005252443.5:c.*54G>A XP_005252500.1:n.*54G>A
NM_001002295.2:c.*54G>A MANE Select NP_001002295.1:n.*54G>A
NM_002051.3:c.*54G>A NP_002042.1:n.*54G>A
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