Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17222492G= , CM000679.2:g.17222492G=	GRCh38
NC_000017.10:g.17125806G= , CM000679.1:g.17125806G=	GRCh37
NC_000017.9:g.17066531G=	NCBI36
NG_008001.2:g.19697C= , LRG_325:g.19697C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285071.9:c.779+9C= MANE Select	ENSP00000285071.4:n.779+9C=
ENST00000285071.8:c.779+9C=	ENSP00000285071.4:n.779+9C=
ENST00000389169.9:c.779+9C=	ENSP00000373821.5:n.779+9C=
ENST00000427497.3:c.149-3438C=	ENSP00000394249.3:n.149-3438C=
ENST00000466317.1:n.622+9C=
ENST00000480316.1:n.745+9C=
NM_144606.5:c.779+9C=	NP_653207.1:n.779+9C=
NM_144997.5:c.779+9C= , LRG_325t1:c.779+9C=	NP_659434.2:n.779+9C=
XM_011523714.1:c.833+9C=	XP_011522016.1:n.833+9C=
XM_011523715.1:c.833+9C=	XP_011522017.1:n.833+9C=
XM_011523716.1:c.833+9C=	XP_011522018.1:n.833+9C=
XM_011523717.1:c.833+9C=	XP_011522019.1:n.833+9C=
XM_011523718.1:c.833+9C=	XP_011522020.1:n.833+9C=
XM_011523719.1:c.833+9C=	XP_011522021.1:n.833+9C=
XM_011523720.1:c.557+9C=	XP_011522022.1:n.557+9C=
XM_011523721.1:c.833+9C=	XP_011522023.1:n.833+9C=
XR_934007.1:n.2173+9C=
NM_001353229.1:c.833+9C=	NP_001340158.1:n.833+9C=
NM_001353230.1:c.779+9C=	NP_001340159.1:n.779+9C=
NM_001353231.1:c.779+9C=	NP_001340160.1:n.779+9C=
NM_144606.6:c.779+9C=	NP_653207.1:n.779+9C=
NM_144997.6:c.779+9C=	NP_659434.2:n.779+9C=
XM_011523714.3:c.833+9C=	XP_011522016.1:n.833+9C=
XM_011523718.3:c.833+9C=	XP_011522020.1:n.833+9C=
XM_011523719.3:c.833+9C=	XP_011522021.1:n.833+9C=
XM_011523721.3:c.833+9C=	XP_011522023.1:n.833+9C=
XM_017024305.2:c.833+9C=	XP_016879794.1:n.833+9C=
XM_017024308.1:c.779+9C=	XP_016879797.1:n.779+9C=
XM_017024309.2:c.557+9C=	XP_016879798.1:n.557+9C=
XM_024450635.1:c.833+9C=	XP_024306403.1:n.833+9C=
XR_001752445.2:n.1337+9C=
NM_144997.7:c.779+9C= MANE Select	NP_659434.2:n.779+9C=
NM_001353229.2:c.833+9C=	NP_001340158.1:n.833+9C=
NM_001353230.2:c.779+9C=	NP_001340159.1:n.779+9C=
NM_001353231.2:c.779+9C=	NP_001340160.1:n.779+9C=
NM_144606.7:c.779+9C=	NP_653207.1:n.779+9C=