Canonical Allele Identifier: CA375975675

Gene: GATA3

Linked Data

• dbSNP Id: rs2131521240
• gnomAD v4: 10-8073852-G-T
• MyVariant Identifiers: chr10:g.8115815G>T (hg19) ; chr10:g.8073852G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.8073852G>T , CM000672.2:g.8073852G>T	GRCh38
NC_000010.10:g.8115815G>T , CM000672.1:g.8115815G>T	GRCh37
NC_000010.9:g.8155821G>T	NCBI36
NG_015859.1:g.24149G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346208.4:c.1161G>T	ENSP00000341619.3:p.Lys387Asn
ENST00000379328.9:c.1164G>T MANE Select	ENSP00000368632.3:p.Lys388Asn
ENST00000346208.3:c.1161G>T	ENSP00000341619.3:p.Lys387Asn
ENST00000379328.7:c.1164G>T	ENSP00000368632.3:p.Lys388Asn
ENST00000461472.1:n.683G>T
NM_001002295.1:c.1164G>T	NP_001002295.1:p.Lys388Asn
NM_002051.2:c.1161G>T	NP_002042.1:p.Lys387Asn
XM_005252442.2:c.1164G>T	XP_005252499.1:p.Lys388Asn
XM_005252443.3:c.1164G>T	XP_005252500.1:p.Lys388Asn
XM_005252443.5:c.1164G>T	XP_005252500.1:p.Lys388Asn
NM_001002295.2:c.1164G>T MANE Select	NP_001002295.1:p.Lys388Asn
NM_002051.3:c.1161G>T	NP_002042.1:p.Lys387Asn