Canonical Allele Identifier: CA375965497
Gene: GATA3 HGNC NCBI

Linked Data

dbSNP Id: rs1320708723
gnomAD v2: 10-8097802-C-A
gnomAD v3: 10-8055839-C-A
gnomAD v4: 10-8055839-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.8055839C>A , CM000672.2:g.8055839C>A GRCh38
NC_000010.10:g.8097802C>A , CM000672.1:g.8097802C>A GRCh37
NC_000010.9:g.8137808C>A NCBI36
NG_015859.1:g.6136C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000346208.4:c.184C>A ENSP00000341619.3:p.Pro62Thr
ENST00000379328.9:c.184C>A MANE Select ENSP00000368632.3:p.Pro62Thr
ENST00000481743.2:c.184C>A ENSP00000493486.1:p.Pro62Thr
ENST00000643001.1:c.184C>A ENSP00000494284.1:p.Pro62Thr
ENST00000346208.3:c.184C>A ENSP00000341619.3:p.Pro62Thr
ENST00000379328.7:c.184C>A ENSP00000368632.3:p.Pro62Thr
NM_001002295.1:c.184C>A NP_001002295.1:p.Pro62Thr
NM_002051.2:c.184C>A NP_002042.1:p.Pro62Thr
XM_005252442.2:c.184C>A XP_005252499.1:p.Pro62Thr
XM_005252443.3:c.184C>A XP_005252500.1:p.Pro62Thr
XM_005252443.5:c.184C>A XP_005252500.1:p.Pro62Thr
XR_001747358.1:n.617+927G>T
NM_001002295.2:c.184C>A MANE Select NP_001002295.1:p.Pro62Thr
NM_002051.3:c.184C>A NP_002042.1:p.Pro62Thr