Canonical Allele Identifier: CA5404600

Gene: GATA3

Linked Data

• dbSNP Id: rs777099828
• ExAC: 10:8116017 C / T
• gnomAD v2: 10-8116017-C-T
• gnomAD v3: 10-8074054-C-T
• gnomAD v4: 10-8074054-C-T
• MyVariant Identifiers: chr10:g.8116017C>T (hg19) ; chr10:g.8074054C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.8074054C>T , CM000672.2:g.8074054C>T	GRCh38
NC_000010.10:g.8116017C>T , CM000672.1:g.8116017C>T	GRCh37
NC_000010.9:g.8156023C>T	NCBI36
NG_015859.1:g.24351C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346208.4:c.*31C>T	ENSP00000341619.3:n.*31C>T
ENST00000379328.9:c.*31C>T MANE Select	ENSP00000368632.3:n.*31C>T
ENST00000346208.3:c.*31C>T	ENSP00000341619.3:n.*31C>T
ENST00000379328.7:c.*31C>T	ENSP00000368632.3:n.*31C>T
ENST00000461472.1:n.885C>T
NM_001002295.1:c.*31C>T	NP_001002295.1:n.*31C>T
NM_002051.2:c.*31C>T	NP_002042.1:n.*31C>T
XM_005252442.2:c.*31C>T	XP_005252499.1:n.*31C>T
XM_005252443.3:c.*31C>T	XP_005252500.1:n.*31C>T
XM_005252443.5:c.*31C>T	XP_005252500.1:n.*31C>T
NM_001002295.2:c.*31C>T MANE Select	NP_001002295.1:n.*31C>T
NM_002051.3:c.*31C>T	NP_002042.1:n.*31C>T