Canonical Allele Identifier: CA5404587

Gene: GATA3

Linked Data

• dbSNP Id: rs764265221
• ExAC: 10:8115974 C / T
• gnomAD v2: 10-8115974-C-T
• gnomAD v4: 10-8074011-C-T
• COSMIC: COSM5450835
• MyVariant Identifiers: chr10:g.8115974C>T (hg19) ; chr10:g.8074011C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.8074011C>T , CM000672.2:g.8074011C>T	GRCh38
NC_000010.10:g.8115974C>T , CM000672.1:g.8115974C>T	GRCh37
NC_000010.9:g.8155980C>T	NCBI36
NG_015859.1:g.24308C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346208.4:c.1320C>T	ENSP00000341619.3:p.Thr440=
ENST00000379328.9:c.1323C>T MANE Select	ENSP00000368632.3:p.Thr441=
ENST00000346208.3:c.1320C>T	ENSP00000341619.3:p.Thr440=
ENST00000379328.7:c.1323C>T	ENSP00000368632.3:p.Thr441=
ENST00000461472.1:n.842C>T
NM_001002295.1:c.1323C>T	NP_001002295.1:p.Thr441=
NM_002051.2:c.1320C>T	NP_002042.1:p.Thr440=
XM_005252442.2:c.1323C>T	XP_005252499.1:p.Thr441=
XM_005252443.3:c.1323C>T	XP_005252500.1:p.Thr441=
XM_005252443.5:c.1323C>T	XP_005252500.1:p.Thr441=
NM_001002295.2:c.1323C>T MANE Select	NP_001002295.1:p.Thr441=
NM_002051.3:c.1320C>T	NP_002042.1:p.Thr440=