Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65076622T= , CM000676.2:g.65076622T=	GRCh38
NC_000014.8:g.65543340T= , CM000676.1:g.65543340T=	GRCh37
NC_000014.7:g.64613093T=	NCBI36
NG_029830.1:g.30888A= , LRG_530:g.30888A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556892.6:c.118A=	ENSP00000452206.2:p.Thr40=
ENST00000556979.6:c.*790A=	ENSP00000452378.1:n.*790A=
ENST00000358664.9:c.337A= MANE Select	ENSP00000351490.4:p.Thr113=
ENST00000651648.1:c.145-6253A=	ENSP00000498863.1:n.145-6253A=
ENST00000284165.10:c.*1181A=	ENSP00000284165.6:n.*1181A=
ENST00000341653.6:c.171+17086A=	ENSP00000342482.2:n.171+17086A=
ENST00000358402.8:c.310A=	ENSP00000351175.4:p.Thr104=
ENST00000358664.8:c.337A=	ENSP00000351490.4:p.Thr113=
ENST00000394606.6:c.*110A=	ENSP00000378104.2:n.*110A=
ENST00000553928.5:c.*126A=	ENSP00000451907.1:n.*126A=
ENST00000555419.5:c.229A=	ENSP00000452405.1:p.Thr77=
ENST00000555932.5:c.78A=	ENSP00000450763.1:p.Arg26=
ENST00000556892.5:c.118A=	ENSP00000452206.1:p.Thr40=
ENST00000557277.5:c.148A=	ENSP00000450955.1:p.Thr50=
ENST00000618858.4:c.*126A=	ENSP00000480127.1:n.*126A=
NM_001271069.1:c.144+17086A=	NP_001257998.1:n.144+17086A=
NM_002382.4:c.337A=	NP_002373.3:p.Thr113=
NM_145112.2:c.310A=	NP_660087.1:p.Thr104=
NM_145113.2:c.*126A=	NP_660088.1:n.*126A=
NM_197957.3:c.171+17086A=	NP_932061.1:n.171+17086A=
NR_073137.1:n.461A=
XR_429315.2:n.624A=
XR_943450.1:n.705A=
XR_943451.1:n.721A=
XR_943452.1:n.667A=
NM_001320415.1:c.148A=	NP_001307344.1:p.Thr50=
XM_017021312.2:c.148A=	XP_016876801.1:p.Thr50=
XM_017021313.1:c.148A=	XP_016876802.1:p.Thr50=
XR_001750326.2:n.682A=
XR_001750327.2:n.601A=
XR_002957553.1:n.1115A=
XR_943450.3:n.705A=
XR_943451.3:n.721A=
XR_943452.3:n.666A=
NM_001320415.2:c.148A=	NP_001307344.1:p.Thr50=
NM_002382.5:c.337A= MANE Select	NP_002373.3:p.Thr113=
NM_145112.3:c.310A=	NP_660087.1:p.Thr104=
NM_145113.3:c.*126A=	NP_660088.1:n.*126A=
NM_001271069.2:c.144+17086A=	NP_001257998.1:n.144+17086A=
NM_197957.4:c.171+17086A=	NP_932061.1:n.171+17086A=