Canonical Allele Identifier: CA229111

Gene: STAT6

Linked Data

• ClinVar Variation Id: 100843
• ClinVar RCV Id: RCV000087205
• dbSNP Id: rs483352723
• MyVariant Identifiers: chr12:g.57501075A>C (hg19) ; chr12:g.57107292A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57107292A>C , CM000674.2:g.57107292A>C	GRCh38
NC_000012.11:g.57501075A>C , CM000674.1:g.57501075A>C	GRCh37
NC_000012.10:g.55787342A>C	NCBI36
NG_021272.1:g.9122T>G
NG_021272.2:g.29848T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000300134.8:c.278T>G MANE Select	ENSP00000300134.3:p.Leu93Arg
ENST00000553533.2:c.278T>G	ENSP00000451546.2:p.Leu93Arg
ENST00000554764.6:c.*22T>G	ENSP00000451909.1:n.*22T>G
ENST00000640254.2:c.278T>G	ENSP00000491116.2:p.Leu93Arg
ENST00000651176.1:c.278T>G	ENSP00000498693.1:p.Leu93Arg
ENST00000300134.7:c.278T>G	ENSP00000300134.3:p.Leu93Arg
ENST00000454075.7:c.278T>G	ENSP00000401486.3:p.Leu93Arg
ENST00000537215.6:c.-53T>G	ENSP00000444530.2:n.-53T>G
ENST00000538913.6:c.-53T>G	ENSP00000445409.2:n.-53T>G
ENST00000543873.6:c.278T>G	ENSP00000438451.2:p.Leu93Arg
ENST00000553397.5:c.278T>G	ENSP00000452203.1:p.Leu93Arg
ENST00000553499.5:c.278T>G	ENSP00000451074.1:p.Leu93Arg
ENST00000554663.5:c.278T>G	ENSP00000450665.1:p.Leu93Arg
ENST00000554764.5:c.*22T>G	ENSP00000451909.1:n.*22T>G
ENST00000554825.5:c.278T>G	ENSP00000451209.1:p.Leu93Arg
ENST00000555104.5:c.*22T>G	ENSP00000450510.1:n.*22T>G
ENST00000555641.1:n.283T>G
ENST00000555849.5:c.278T>G	ENSP00000452394.1:p.Leu93Arg
ENST00000556155.5:c.278T>G	ENSP00000451742.1:p.Leu93Arg
ENST00000556259.5:c.224T>G	ENSP00000452373.1:p.Leu75Arg
NM_001178078.1:c.278T>G	NP_001171549.1:p.Leu93Arg
NM_001178079.1:c.278T>G	NP_001171550.1:p.Leu93Arg
NM_001178080.1:c.-53T>G	NP_001171551.1:n.-53T>G
NM_001178081.1:c.-53T>G	NP_001171552.1:n.-53T>G
NM_003153.4:c.278T>G	NP_003144.3:p.Leu93Arg
NR_033659.1:n.445T>G
XM_006719574.1:c.278T>G	XP_006719637.1:p.Leu93Arg
XM_006719575.1:c.278T>G	XP_006719638.1:p.Leu93Arg
XM_011538703.1:c.278T>G	XP_011537005.1:p.Leu93Arg
XM_011538704.1:c.278T>G	XP_011537006.1:p.Leu93Arg
XM_011538705.1:c.278T>G	XP_011537007.1:p.Leu93Arg
XM_011538706.1:c.278T>G	XP_011537008.1:p.Leu93Arg
XM_011538707.1:c.278T>G	XP_011537009.1:p.Leu93Arg
XM_011538708.1:c.-53T>G	XP_011537010.1:n.-53T>G
XM_011538709.1:c.-53T>G	XP_011537011.1:n.-53T>G
XM_011538703.3:c.278T>G	XP_011537005.1:p.Leu93Arg
XM_011538704.3:c.278T>G	XP_011537006.1:p.Leu93Arg
XM_011538705.3:c.278T>G	XP_011537007.1:p.Leu93Arg
XM_011538707.3:c.278T>G	XP_011537009.1:p.Leu93Arg
XM_011538708.3:c.-53T>G	XP_011537010.1:n.-53T>G
NM_003153.5:c.278T>G MANE Select	NP_003144.3:p.Leu93Arg
NM_001178078.2:c.278T>G	NP_001171549.1:p.Leu93Arg
NM_001178079.2:c.278T>G	NP_001171550.1:p.Leu93Arg
NM_001178080.2:c.-53T>G	NP_001171551.1:n.-53T>G
NM_001178081.2:c.-53T>G	NP_001171552.1:n.-53T>G
NR_033659.2:n.394T>G