Canonical Allele Identifier: CA375973461

Gene: GATA3

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.8064035T>C , CM000672.2:g.8064035T>C	GRCh38
NC_000010.10:g.8105998T>C , CM000672.1:g.8105998T>C	GRCh37
NC_000010.9:g.8146004T>C	NCBI36
NG_015859.1:g.14332T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001002295.2:c.821T>C MANE Select	NP_001002295.1:p.Leu274Pro
ENST00000379328.9:c.821T>C MANE Select	ENSP00000368632.3:p.Leu274Pro
NM_001002295.1:c.821T>C	NP_001002295.1:p.Leu274Pro
NM_002051.2:c.818T>C	NP_002042.1:p.Leu273Pro
NM_002051.3:c.818T>C	NP_002042.1:p.Leu273Pro
ENST00000346208.3:c.818T>C	ENSP00000341619.3:p.Leu273Pro
ENST00000346208.4:c.818T>C	ENSP00000341619.3:p.Leu273Pro
ENST00000379328.7:c.821T>C	ENSP00000368632.3:p.Leu274Pro
ENST00000461472.1:n.443+5194T>C
XM_005252442.2:c.821T>C	XP_005252499.1:p.Leu274Pro
XM_005252443.3:c.821T>C	XP_005252500.1:p.Leu274Pro
XM_005252443.5:c.821T>C	XP_005252500.1:p.Leu274Pro