Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.110265109G>T , CM000673.2:g.110265109G>T	GRCh38
NC_000011.9:g.110135834G>T , CM000673.1:g.110135834G>T	GRCh37
NC_000011.8:g.109641044G>T	NCBI36
NG_023044.1:g.36604C>A
NG_023044.2:g.36604C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_002906.4:c.97-235C>A MANE Select	NP_002897.1:n.97-235C>A
ENST00000645495.2:c.97-235C>A MANE Select	ENSP00000496503.2:n.97-235C>A
NM_001260492.1:c.97-235C>A	NP_001247421.1:n.97-235C>A
NM_001260492.2:c.97-235C>A	NP_001247421.1:n.97-235C>A
NM_001260493.1:c.97-235C>A	NP_001247422.1:n.97-235C>A
NM_001260493.2:c.97-235C>A	NP_001247422.1:n.97-235C>A
NM_001260494.1:c.60-6920C>A	NP_001247423.1:n.60-6920C>A
NM_001260494.2:c.60-6920C>A	NP_001247423.1:n.60-6920C>A
NM_001260495.1:c.-83+14572C>A	NP_001247424.1:n.-83+14572C>A
NM_001260495.2:c.-83+14572C>A	NP_001247424.1:n.-83+14572C>A
NM_001260496.1:c.97-875C>A	NP_001247425.1:n.97-875C>A
NM_001260496.2:c.97-875C>A	NP_001247425.1:n.97-875C>A
NM_002906.3:c.97-235C>A	NP_002897.1:n.97-235C>A
ENST00000343115.8:c.97-235C>A	ENSP00000342830.4:n.97-235C>A
ENST00000405097.5:c.97-235C>A	ENSP00000384136.1:n.97-235C>A
ENST00000528498.5:c.97-235C>A	ENSP00000432112.1:n.97-235C>A
ENST00000528556.5:c.*85-235C>A	ENSP00000434881.1:n.*85-235C>A
ENST00000528900.5:c.-83+14572C>A	ENSP00000433580.1:n.-83+14572C>A
ENST00000530131.5:c.97-6920C>A	ENSP00000432829.1:n.97-6920C>A
ENST00000530301.5:c.97-875C>A	ENSP00000436277.1:n.97-875C>A
ENST00000530749.5:c.97-235C>A	ENSP00000437301.1:n.97-235C>A
ENST00000532118.5:c.64-235C>A	ENSP00000437140.1:n.64-235C>A
ENST00000533678.1:c.*85-235C>A	ENSP00000435930.1:n.*85-235C>A
ENST00000533991.1:c.64-235C>A	ENSP00000432572.1:n.64-235C>A
ENST00000534683.1:c.-137-1089C>A	ENSP00000431560.1:n.-137-1089C>A
ENST00000544551.5:c.60-6920C>A	ENSP00000445826.1:n.60-6920C>A
ENST00000645527.1:c.97-235C>A	ENSP00000496121.1:n.97-235C>A
ENST00000646663.1:c.97-235C>A	ENSP00000494693.1:n.97-235C>A
ENST00000647231.1:c.97-235C>A	ENSP00000496414.1:n.97-235C>A