Canonical Allele Identifier: CA468400545
Gene: GATA3 HGNC NCBI

Linked Data

dbSNP Id: rs1158316348
gnomAD v2: 10-8100287-G-C
gnomAD v3: 10-8058324-G-C
gnomAD v4: 10-8058324-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.8058324G>C , CM000672.2:g.8058324G>C GRCh38
NC_000010.10:g.8100287G>C , CM000672.1:g.8100287G>C GRCh37
NC_000010.9:g.8140293G>C NCBI36
NG_015859.1:g.8621G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000346208.4:c.261G>C ENSP00000341619.3:p.Pro87=
ENST00000379328.9:c.261G>C MANE Select ENSP00000368632.3:p.Pro87=
ENST00000481743.2:c.261G>C ENSP00000493486.1:p.Pro87=
ENST00000346208.3:c.261G>C ENSP00000341619.3:p.Pro87=
ENST00000379328.7:c.261G>C ENSP00000368632.3:p.Pro87=
NM_001002295.1:c.261G>C NP_001002295.1:p.Pro87=
NM_002051.2:c.261G>C NP_002042.1:p.Pro87=
XM_005252442.2:c.261G>C XP_005252499.1:p.Pro87=
XM_005252443.3:c.261G>C XP_005252500.1:p.Pro87=
XM_005252443.5:c.261G>C XP_005252500.1:p.Pro87=
NM_001002295.2:c.261G>C MANE Select NP_001002295.1:p.Pro87=
NM_002051.3:c.261G>C NP_002042.1:p.Pro87=