Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18069720G= , CM000681.2:g.18069720G=	GRCh38
NC_000019.9:g.18180530G= , CM000681.1:g.18180530G=	GRCh37
NC_000019.8:g.18041530G=	NCBI36
NG_007366.2:g.34230C= , LRG_72:g.34230C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593993.7:c.1022-7C= MANE Select	ENSP00000472165.2:n.1022-7C=
ENST00000593993.6:c.1022-7C=	ENSP00000472165.2:n.1022-7C=
ENST00000600835.6:c.1022-7C=	ENSP00000470788.1:n.1022-7C=
NM_001290023.1:c.1022-7C=	NP_001276952.1:n.1022-7C=
NM_001290024.1:c.1142-7C=	NP_001276953.1:n.1142-7C=
NM_005535.2:c.1022-7C=	NP_005526.1:n.1022-7C=
XM_006722741.2:c.1142-7C=	XP_006722804.2:n.1142-7C=
XM_011527966.1:c.1175-7C=	XP_011526268.1:n.1175-7C=
XM_011527967.1:c.1163-7C=	XP_011526269.1:n.1163-7C=
XM_011527968.1:c.1154-7C=	XP_011526270.1:n.1154-7C=
XM_011527969.1:c.1142-7C=	XP_011526271.1:n.1142-7C=
XM_011527970.1:c.1175-7C=	XP_011526272.1:n.1175-7C=
XM_011527971.1:c.1175-7C=	XP_011526273.1:n.1175-7C=
XM_011527972.1:c.1175-7C=	XP_011526274.1:n.1175-7C=
XM_011527973.1:c.1055-7C=	XP_011526275.1:n.1055-7C=
XM_011527974.1:c.1043-7C=	XP_011526276.1:n.1043-7C=
XM_011527975.1:c.1142-7C=	XP_011526277.1:n.1142-7C=
XM_011527976.1:c.1175-7C=	XP_011526278.1:n.1175-7C=
XM_006722741.3:c.1142-7C=	XP_006722804.2:n.1142-7C=
XM_011527966.2:c.1175-7C=	XP_011526268.1:n.1175-7C=
XM_011527967.2:c.1163-7C=	XP_011526269.1:n.1163-7C=
XM_011527968.3:c.1154-7C=	XP_011526270.1:n.1154-7C=
XM_011527969.2:c.1142-7C=	XP_011526271.1:n.1142-7C=
XM_011527970.2:c.1175-7C=	XP_011526272.1:n.1175-7C=
XM_011527971.3:c.1175-7C=	XP_011526273.1:n.1175-7C=
XM_011527972.3:c.1175-7C=	XP_011526274.1:n.1175-7C=
XM_011527973.2:c.1055-7C=	XP_011526275.1:n.1055-7C=
XM_011527974.2:c.1043-7C=	XP_011526276.1:n.1043-7C=
XM_011527975.2:c.1142-7C=	XP_011526277.1:n.1142-7C=
XM_011527976.2:c.1175-7C=	XP_011526278.1:n.1175-7C=
XM_017026762.1:c.440-7C=	XP_016882251.1:n.440-7C=
NM_001290023.2:c.1022-7C=	NP_001276952.1:n.1022-7C=
NM_005535.3:c.1022-7C= MANE Select	NP_005526.1:n.1022-7C=