Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75751112G= , CM000679.2:g.75751112G=	GRCh38
NC_000017.10:g.73747193G= , CM000679.1:g.73747193G=	GRCh37
NC_000017.9:g.71258788G=	NCBI36
NG_007372.1:g.34678G=
NG_008079.2:g.19088C=

Transcript Alleles

HGVS	Amino-acid Change
NM_000213.5:c.3793+1G= MANE Select	NP_000204.3:n.3793+1G=
ENST00000200181.8:c.3793+1G= MANE Select	ENSP00000200181.3:n.3793+1G=
NM_000213.3:c.3793+1G=	NP_000204.3:n.3793+1G=
NM_000213.4:c.3793+1G=	NP_000204.3:n.3793+1G=
NM_001005619.1:c.3793+1G=	NP_001005619.1:n.3793+1G=
NM_001005731.1:c.3793+1G=	NP_001005731.1:n.3793+1G=
NM_001005731.2:c.3793+1G=	NP_001005731.1:n.3793+1G=
NM_001005731.3:c.3793+1G=	NP_001005731.1:n.3793+1G=
NM_001321123.1:c.3793+1G=	NP_001308052.1:n.3793+1G=
NM_001321123.2:c.3793+1G=	NP_001308052.1:n.3793+1G=
ENST00000200181.7:c.3793+1G=	ENSP00000200181.3:n.3793+1G=
ENST00000449880.6:c.3793+1G=	ENSP00000400217.2:n.3793+1G=
ENST00000449880.7:c.3793+1G=	ENSP00000400217.2:n.3793+1G=
ENST00000450894.7:c.3793+1G=	ENSP00000405536.3:n.3793+1G=
ENST00000579662.5:c.3793+1G=	ENSP00000463651.1:n.3793+1G=
ENST00000582629.1:c.266-6514G=	ENSP00000463788.1:n.266-6514G=
XM_005257309.2:c.3793+1G=	XP_005257366.1:n.3793+1G=
XM_005257311.3:c.3793+1G=	XP_005257368.1:n.3793+1G=
XM_005257311.4:c.3793+1G=	XP_005257368.1:n.3793+1G=
XM_005257312.2:c.3793+1G=	XP_005257369.1:n.3793+1G=
XM_006721866.2:c.3898+1G=	XP_006721929.1:n.3898+1G=
XM_006721866.3:c.3898+1G=	XP_006721929.1:n.3898+1G=
XM_006721867.2:c.3898+1G=	XP_006721930.1:n.3898+1G=
XM_006721867.3:c.3898+1G=	XP_006721930.1:n.3898+1G=
XM_006721868.2:c.3898+1G=	XP_006721931.1:n.3898+1G=
XM_006721868.3:c.3898+1G=	XP_006721931.1:n.3898+1G=
XM_006721870.2:c.3898+1G=	XP_006721933.1:n.3898+1G=
XM_006721870.3:c.3898+1G=	XP_006721933.1:n.3898+1G=
XM_011524751.1:c.3898+1G=	XP_011523053.1:n.3898+1G=
XM_011524751.2:c.3898+1G=	XP_011523053.1:n.3898+1G=
XM_011524752.1:c.1738+1G=	XP_011523054.1:n.1738+1G=
XM_011524752.2:c.1738+1G=	XP_011523054.1:n.1738+1G=