Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.46241770A>T , CM000684.2:g.46241770A>T	GRCh38
NC_000022.10:g.46637667A>T , CM000684.1:g.46637667A>T	GRCh37
NC_000022.9:g.45016331A>T	NCBI36
NG_012204.1:g.96169A>T
NG_012204.2:g.96237A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005036.6:c.*6390A>T MANE Select	NP_005027.2:n.*6390A>T
ENST00000407236.6:c.*6390A>T MANE Select	ENSP00000385523.1:n.*6390A>T
NM_001001928.2:c.*6390A>T	NP_001001928.1:n.*6390A>T
NM_001001928.3:c.*6390A>T	NP_001001928.1:n.*6390A>T
NM_001001928.4:c.*6390A>T	NP_001001928.1:n.*6390A>T
NM_001001929.3:c.*6390A>T	NP_001001929.1:n.*6390A>T
NM_001362872.1:c.*6390A>T	NP_001349801.1:n.*6390A>T
NM_001362872.2:c.*6390A>T	NP_001349801.1:n.*6390A>T
NM_001362873.1:c.*6390A>T	NP_001349802.1:n.*6390A>T
NM_001362873.3:c.*6390A>T	NP_001349802.1:n.*6390A>T
NM_001393941.1:c.*6390A>T	NP_001380870.1:n.*6390A>T
NM_001393942.1:c.*6390A>T	NP_001380871.1:n.*6390A>T
NM_001393943.1:c.*6390A>T	NP_001380872.1:n.*6390A>T
NM_001393944.1:c.*6390A>T	NP_001380873.1:n.*6390A>T
NM_001393945.1:c.*6390A>T	NP_001380874.1:n.*6390A>T
NM_001393946.1:c.*6390A>T	NP_001380875.1:n.*6390A>T
NM_001393947.1:c.*6390A>T	NP_001380876.1:n.*6390A>T
NM_005036.4:c.*6390A>T	NP_005027.2:n.*6390A>T
NM_005036.5:c.*6390A>T	NP_005027.2:n.*6390A>T
ENST00000262735.9:c.*6390A>T	ENSP00000262735.5:n.*6390A>T
ENST00000407236.5:c.*6390A>T	ENSP00000385523.1:n.*6390A>T
XM_005261655.2:c.*6390A>T	XP_005261712.1:n.*6390A>T
XM_005261656.2:c.*6390A>T	XP_005261713.1:n.*6390A>T
XM_006724269.2:c.*6390A>T	XP_006724332.1:n.*6390A>T
XM_006724270.2:c.*6390A>T	XP_006724333.1:n.*6390A>T
XM_011530239.1:c.*6390A>T	XP_011528541.1:n.*6390A>T
XM_011530240.1:c.*6390A>T	XP_011528542.1:n.*6390A>T
XM_011530241.1:c.*6390A>T	XP_011528543.1:n.*6390A>T
XM_011530242.1:c.*6390A>T	XP_011528544.1:n.*6390A>T
XM_011530243.1:c.*6390A>T	XP_011528545.1:n.*6390A>T
XM_011530244.1:c.*6390A>T	XP_011528546.1:n.*6390A>T
XM_011530245.1:c.*6390A>T	XP_011528547.1:n.*6390A>T
XR_001755253.1:n.8119A>T