Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49075861C>T , CM000685.2:g.49075861C>T	GRCh38
NC_000023.10:g.48933520C>T , CM000685.1:g.48933520C>T	GRCh37
NC_000023.9:g.48820464C>T	NCBI36
NG_033004.1:g.29540G>A
NG_033004.2:g.30310G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001029896.2:c.516+5G>A MANE Select	NP_001025067.1:n.516+5G>A
ENST00000376372.9:c.516+5G>A MANE Select	ENSP00000365551.3:n.516+5G>A
NM_001029896.1:c.516+5G>A	NP_001025067.1:n.516+5G>A
NM_007075.3:c.519+5G>A	NP_009006.2:n.519+5G>A
NM_007075.4:c.519+5G>A	NP_009006.2:n.519+5G>A
ENST00000322995.13:c.549+5G>A	ENSP00000365543.5:n.549+5G>A
ENST00000356463.7:c.519+5G>A	ENSP00000348848.3:n.519+5G>A
ENST00000367375.8:c.385+5G>A
ENST00000376358.4:c.210+5G>A	ENSP00000365536.3:n.210+5G>A
ENST00000376368.7:c.519+5G>A	ENSP00000365546.2:n.519+5G>A
ENST00000376372.8:c.516+5G>A	ENSP00000365551.3:n.516+5G>A
ENST00000396681.9:c.411+5G>A	ENSP00000379913.5:n.411+5G>A
ENST00000419567.7:c.540+5G>A	ENSP00000393640.3:n.540+5G>A
ENST00000423215.3:c.570+5G>A	ENSP00000397657.3:n.570+5G>A
ENST00000433252.7:n.90+5G>A
ENST00000465806.6:n.1673+5G>A
ENST00000471338.6:c.516+5G>A	ENSP00000418466.2:n.516+5G>A
ENST00000472654.1:n.506+5G>A
ENST00000473974.5:c.516+5G>A	ENSP00000417211.1:n.516+5G>A
ENST00000474053.6:c.591+5G>A	ENSP00000420728.1:n.591+5G>A
ENST00000475880.6:c.414+5G>A	ENSP00000418919.2:n.414+5G>A
ENST00000475977.2:c.12+5G>A	ENSP00000417754.2:n.12+5G>A
ENST00000480412.2:n.14G>A
ENST00000485908.6:c.411+5G>A	ENSP00000419897.1:n.411+5G>A
ENST00000634522.1:c.*167+5G>A	ENSP00000489330.1:n.*167+5G>A
ENST00000634559.1:c.315+5G>A	ENSP00000488986.1:n.315+5G>A
ENST00000634736.1:c.210+5G>A	ENSP00000489561.1:n.210+5G>A
ENST00000634838.1:c.516+5G>A	ENSP00000489268.1:n.516+5G>A
ENST00000634852.1:n.213+5G>A
ENST00000634944.1:c.516+5G>A	ENSP00000488972.1:n.516+5G>A
ENST00000635003.1:c.315+5G>A	ENSP00000489080.1:n.315+5G>A
ENST00000635344.1:c.*167+5G>A	ENSP00000489553.1:n.*167+5G>A
ENST00000635666.1:c.444+5G>A	ENSP00000489128.1:n.444+5G>A