Canonical Allele Identifier: CA468401060
Gene: GATA3 HGNC NCBI

Linked Data

dbSNP Id: rs1832973756
MyVariant Identifiers: chr10:g.8115902G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.8073939G>C , CM000672.2:g.8073939G>C GRCh38
NC_000010.10:g.8115902G>C , CM000672.1:g.8115902G>C GRCh37
NC_000010.9:g.8155908G>C NCBI36
NG_015859.1:g.24236G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000346208.4:c.1248G>C ENSP00000341619.3:p.Leu416=
ENST00000379328.9:c.1251G>C MANE Select ENSP00000368632.3:p.Leu417=
ENST00000346208.3:c.1248G>C ENSP00000341619.3:p.Leu416=
ENST00000379328.7:c.1251G>C ENSP00000368632.3:p.Leu417=
ENST00000461472.1:n.770G>C
NM_001002295.1:c.1251G>C NP_001002295.1:p.Leu417=
NM_002051.2:c.1248G>C NP_002042.1:p.Leu416=
XM_005252442.2:c.1251G>C XP_005252499.1:p.Leu417=
XM_005252443.3:c.1251G>C XP_005252500.1:p.Leu417=
XM_005252443.5:c.1251G>C XP_005252500.1:p.Leu417=
NM_001002295.2:c.1251G>C MANE Select NP_001002295.1:p.Leu417=
NM_002051.3:c.1248G>C NP_002042.1:p.Leu416=