Canonical Allele Identifier: CA375965442
Gene: GATA3 HGNC NCBI

Linked Data

dbSNP Id: rs1371434836
gnomAD v2: 10-8097778-G-T
gnomAD v4: 10-8055815-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.8055815G>T , CM000672.2:g.8055815G>T GRCh38
NC_000010.10:g.8097778G>T , CM000672.1:g.8097778G>T GRCh37
NC_000010.9:g.8137784G>T NCBI36
NG_015859.1:g.6112G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000346208.4:c.160G>T ENSP00000341619.3:p.Asp54Tyr
ENST00000379328.9:c.160G>T MANE Select ENSP00000368632.3:p.Asp54Tyr
ENST00000481743.2:c.160G>T ENSP00000493486.1:p.Asp54Tyr
ENST00000643001.1:c.160G>T ENSP00000494284.1:p.Asp54Tyr
ENST00000346208.3:c.160G>T ENSP00000341619.3:p.Asp54Tyr
ENST00000379328.7:c.160G>T ENSP00000368632.3:p.Asp54Tyr
NM_001002295.1:c.160G>T NP_001002295.1:p.Asp54Tyr
NM_002051.2:c.160G>T NP_002042.1:p.Asp54Tyr
XM_005252442.2:c.160G>T XP_005252499.1:p.Asp54Tyr
XM_005252443.3:c.160G>T XP_005252500.1:p.Asp54Tyr
XM_005252443.5:c.160G>T XP_005252500.1:p.Asp54Tyr
XR_001747358.1:n.617+951C>A
NM_001002295.2:c.160G>T MANE Select NP_001002295.1:p.Asp54Tyr
NM_002051.3:c.160G>T NP_002042.1:p.Asp54Tyr