Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50168336G= , CM000679.2:g.50168336G=	GRCh38
NC_000017.10:g.48245697G= , CM000679.1:g.48245697G=	GRCh37
NC_000017.9:g.45600696G=	NCBI36
NG_008889.1:g.7332G= , LRG_203:g.7332G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504073.2:c.386-38G=	ENSP00000422030.2:n.386-38G=
ENST00000511303.6:n.111-38G=
ENST00000512526.2:c.377-38G=	ENSP00000426606.2:n.377-38G=
ENST00000682109.1:c.266-38G=	ENSP00000508041.1:n.266-38G=
ENST00000683226.1:n.96-38G=
ENST00000683294.1:c.386-38G=	ENSP00000508134.1:n.386-38G=
ENST00000262018.8:c.386-38G= MANE Select	ENSP00000262018.3:n.386-38G=
ENST00000262018.7:c.386-38G=	ENSP00000262018.3:n.386-38G=
ENST00000344627.10:c.386-38G=	ENSP00000345522.6:n.386-38G=
ENST00000502555.5:c.*45-38G=	ENSP00000422817.1:n.*45-38G=
ENST00000511303.5:c.107-38G=	ENSP00000426104.1:n.107-38G=
ENST00000512526.1:c.221-38G=
ENST00000513821.5:c.386-38G=	ENSP00000426571.1:n.386-38G=
ENST00000513942.5:n.177-38G=
ENST00000514934.1:c.*92-38G=	ENSP00000423168.1:n.*92-38G=
NM_000023.2:c.386-38G= , LRG_203t1:c.386-38G=	NP_000014.1:n.386-38G=
NM_001135697.1:c.386-38G=	NP_001129169.1:n.386-38G=
XM_011525120.1:c.386-38G=	XP_011523422.1:n.386-38G=
XM_011525121.1:c.386-38G=	XP_011523423.1:n.386-38G=
XM_011525122.1:c.386-38G=	XP_011523424.1:n.386-38G=
XM_011525123.1:c.386-38G=	XP_011523425.1:n.386-38G=
XM_011525124.1:c.80-38G=	XP_011523426.1:n.80-38G=
XR_934517.1:n.452-38G=
NM_000023.3:c.386-38G=	NP_000014.1:n.386-38G=
NM_001135697.2:c.386-38G=	NP_001129169.1:n.386-38G=
NR_135553.1:n.442-38G=
XM_011525120.2:c.548-38G=	XP_011523422.2:n.548-38G=
XM_011525121.2:c.548-38G=	XP_011523423.2:n.548-38G=
XM_011525122.2:c.548-38G=	XP_011523424.2:n.548-38G=
XM_011525123.2:c.548-38G=	XP_011523425.2:n.548-38G=
XM_011525124.2:c.80-38G=	XP_011523426.1:n.80-38G=
XM_024450873.1:c.80-38G=	XP_024306641.1:n.80-38G=
XR_002958056.1:n.904-38G=
NM_000023.4:c.386-38G= MANE Select	NP_000014.1:n.386-38G=
NM_001135697.3:c.386-38G=	NP_001129169.1:n.386-38G=
NR_135553.2:n.422-38G=