Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.10877076G= , CM000678.2:g.10877076G=	GRCh38
NC_000016.9:g.10970933G= , CM000678.1:g.10970933G=	GRCh37
NC_000016.8:g.10878434G=	NCBI36
NG_009628.1:g.4879G= , LRG_49:g.4879G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000636238.1:c.-21+10757G=	ENSP00000490205.1:n.-21+10757G=
ENST00000637439.1:c.283+10504G=	ENSP00000489907.1:n.283+10504G=
XM_006720880.2:c.346+10504G=	XP_006720943.2:n.346+10504G=
XM_011522484.1:c.346+10504G=	XP_011520786.1:n.346+10504G=
XM_011522485.1:c.346+10504G=	XP_011520787.1:n.346+10504G=
XM_011522486.1:c.346+10504G=	XP_011520788.1:n.346+10504G=
XM_011522487.1:c.247+10504G=	XP_011520789.1:n.247+10504G=
XM_011522489.1:c.247+10504G=	XP_011520791.1:n.247+10504G=
XM_011522491.1:c.346+10504G=	XP_011520793.1:n.346+10504G=
XM_011522494.1:c.-21+10757G=	XP_011520796.1:n.-21+10757G=
XR_932841.1:n.361+10504G=
XR_932842.1:n.361+10504G=
XR_932843.1:n.361+10504G=
XR_932846.1:n.361+10504G=
XR_932847.1:n.361+10504G=
XR_933067.1:n.1162+11239C=
XR_933068.1:n.1162+11239C=
XM_006720880.3:c.346+10504G=	XP_006720943.2:n.346+10504G=
XM_011522484.3:c.346+10504G=	XP_011520786.1:n.346+10504G=
XM_011522485.2:c.346+10504G=	XP_011520787.1:n.346+10504G=
XM_011522486.2:c.346+10504G=	XP_011520788.1:n.346+10504G=
XM_011522487.2:c.247+10504G=	XP_011520789.1:n.247+10504G=
XM_011522489.2:c.247+10504G=	XP_011520791.1:n.247+10504G=
XM_011522491.2:c.346+10504G=	XP_011520793.1:n.346+10504G=
XM_011522492.2:c.-255G=	XP_011520794.1:n.-255G=
XM_011522493.2:c.-255G=	XP_011520795.1:n.-255G=
XM_011522494.2:c.-21+10757G=	XP_011520796.1:n.-21+10757G=
XM_011522495.2:c.-255G=	XP_011520797.1:n.-255G=
XM_011522496.2:c.-255G=	XP_011520798.1:n.-255G=
XM_024450280.1:c.-255G=	XP_024306048.1:n.-255G=
XM_024450281.1:c.-255G=	XP_024306049.1:n.-255G=
XR_001751904.1:n.365+10504G=
XR_002957860.1:n.1246+11239C=
XR_002957861.1:n.1246+11239C=
XR_002957863.1:n.1442+5943C=
XR_932841.3:n.363+10504G=
XR_932842.2:n.363+10504G=
XR_932846.3:n.365+10504G=
XR_932847.3:n.365+10504G=