Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.74181501C= , CM000677.2:g.74181501C=	GRCh38
NC_000015.9:g.74473842C= , CM000677.1:g.74473842C=	GRCh37
NC_000015.8:g.72260895C=	NCBI36
NG_009207.1:g.32530G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395105.9:c.1521-43G= MANE Select	ENSP00000378537.4:n.1521-43G=
ENST00000323940.9:c.1521-43G=	ENSP00000326085.5:n.1521-43G=
ENST00000395105.8:c.1521-43G=	ENSP00000378537.4:n.1521-43G=
ENST00000416286.7:c.1497-43G=	ENSP00000400403.3:n.1497-43G=
ENST00000423167.6:c.1494-43G=	ENSP00000413012.2:n.1494-43G=
ENST00000449139.6:c.1521-43G=	ENSP00000410221.2:n.1521-43G=
ENST00000535552.5:c.1632-43G=	ENSP00000440238.1:n.1632-43G=
ENST00000545137.5:n.1230-43G=
ENST00000563965.5:c.1638-43G=	ENSP00000456609.1:n.1638-43G=
ENST00000572785.1:c.376-43G=
ENST00000574278.5:c.1566-43G=	ENSP00000458827.1:n.1566-43G=
ENST00000574439.5:n.1793-43G=
ENST00000616000.4:c.1521-43G=	ENSP00000479112.1:n.1521-43G=
NM_001142617.1:c.1521-43G=	NP_001136089.1:n.1521-43G=
NM_001142618.1:c.1521-43G=	NP_001136090.1:n.1521-43G=
NM_001142619.1:c.1494-43G=	NP_001136091.1:n.1494-43G=
NM_001199040.1:c.1632-43G=	NP_001185969.1:n.1632-43G=
NM_001199041.1:c.1566-43G=	NP_001185970.1:n.1566-43G=
NM_001199042.1:c.1638-43G=	NP_001185971.1:n.1638-43G=
NM_022369.3:c.1521-43G=	NP_071764.3:n.1521-43G=
XM_011521883.1:c.1521-43G=	XP_011520185.1:n.1521-43G=
XM_011521884.1:c.1332-43G=	XP_011520186.1:n.1332-43G=
XR_931877.1:n.1604-43G=
XM_017022478.1:c.1569-43G=	XP_016877967.1:n.1569-43G=
XM_017022479.1:c.1521-43G=	XP_016877968.1:n.1521-43G=
XM_017022480.1:c.1332-43G=	XP_016877969.1:n.1332-43G=
XR_931877.2:n.1604-43G=
NM_022369.4:c.1521-43G= MANE Select	NP_071764.3:n.1521-43G=
NM_001142617.2:c.1521-43G=	NP_001136089.1:n.1521-43G=
NM_001142619.2:c.1494-43G=	NP_001136091.1:n.1494-43G=
NM_001199042.2:c.1638-43G=	NP_001185971.1:n.1638-43G=
NM_001142618.2:c.1521-43G=	NP_001136090.1:n.1521-43G=
NM_001199040.2:c.1632-43G=	NP_001185969.1:n.1632-43G=
NM_001199041.2:c.1566-43G=	NP_001185970.1:n.1566-43G=