Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.113706210A>G , CM000673.2:g.113706210A>G	GRCh38
NC_000011.9:g.113576932A>G , CM000673.1:g.113576932A>G	GRCh37
NC_000011.8:g.113082142A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_030770.4:c.3+12T>C MANE Select	NP_110397.2:n.3+12T>C
ENST00000299882.11:c.3+12T>C MANE Select	ENSP00000299882.5:n.3+12T>C
NM_001288749.1:c.-27+12T>C	NP_001275678.1:n.-27+12T>C
NM_001288749.2:c.-27+12T>C	NP_001275678.1:n.-27+12T>C
NM_001288750.1:c.-27+12T>C	NP_001275679.1:n.-27+12T>C
NM_001288750.2:c.-27+12T>C	NP_001275679.1:n.-27+12T>C
NM_001288751.1:c.-129+12T>C	NP_001275680.1:n.-129+12T>C
NM_001288751.2:c.-129+12T>C	NP_001275680.1:n.-129+12T>C
NM_001288752.1:c.3+12T>C	NP_001275681.1:n.3+12T>C
NM_001288752.2:c.3+12T>C	NP_001275681.1:n.3+12T>C
NM_030770.3:c.3+12T>C	NP_110397.2:n.3+12T>C
NR_110046.1:n.152+12T>C
NR_110046.2:n.87+12T>C
NR_110047.1:n.152+12T>C
NR_110047.2:n.87+12T>C
ENST00000299882.9:c.3+12T>C	ENSP00000299882.5:n.3+12T>C
ENST00000536856.5:c.-573+12T>C	ENSP00000437937.1:n.-573+12T>C
ENST00000538091.1:c.3+12T>C	ENSP00000440976.1:n.3+12T>C
ENST00000538770.1:c.-472+12T>C	ENSP00000445502.1:n.-472+12T>C
ENST00000538955.5:c.-27+12T>C	ENSP00000445528.1:n.-27+12T>C
ENST00000539732.5:c.-450+12T>C	ENSP00000443681.1:n.-450+12T>C
ENST00000540540.5:c.-573+12T>C	ENSP00000437761.1:n.-573+12T>C
ENST00000544476.1:c.-27+12T>C	ENSP00000445930.1:n.-27+12T>C
ENST00000544634.5:c.3+12T>C	ENSP00000440783.1:n.3+12T>C
ENST00000545579.5:c.-129+12T>C	ENSP00000441104.1:n.-129+12T>C
ENST00000545579.6:c.-129+12T>C	ENSP00000441104.1:n.-129+12T>C
ENST00000645981.1:c.3+12T>C	ENSP00000496410.1:n.3+12T>C
XM_011543014.1:c.-6-6042T>C	XP_011541316.1:n.-6-6042T>C
XM_011543015.1:c.3+12T>C	XP_011541317.1:n.3+12T>C
XM_011543016.1:c.3+12T>C	XP_011541318.1:n.3+12T>C
XM_017018366.1:c.-1714+12T>C	XP_016873855.1:n.-1714+12T>C
XM_017018367.1:c.-1906+12T>C	XP_016873856.1:n.-1906+12T>C
XR_001747990.1:n.3590+12T>C
XR_001747991.1:n.3590+12T>C
XR_001747992.1:n.3590+12T>C