Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23876426T= , CM000680.2:g.23876426T=	GRCh38
NC_000018.9:g.21456390T= , CM000680.1:g.21456390T=	GRCh37
NC_000018.8:g.19710388T=	NCBI36
NG_007853.2:g.191829T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000269217.11:c.285+19T= MANE Plus Clinical	ENSP00000269217.5:n.285+19T=
ENST00000313654.14:c.5112+19T= MANE Select	ENSP00000324532.8:n.5112+19T=
ENST00000649721.1:c.2004+19T=	ENSP00000497885.1:n.2004+19T=
ENST00000269217.10:c.285+19T=	ENSP00000269217.5:n.285+19T=
ENST00000313654.13:c.5112+19T=	ENSP00000324532.8:n.5112+19T=
ENST00000399516.7:c.5112+19T=	ENSP00000382432.2:n.5112+19T=
ENST00000587184.5:c.285+19T=	ENSP00000466557.1:n.285+19T=
NM_000227.4:c.285+19T=	NP_000218.3:n.285+19T=
NM_001127717.2:c.5112+19T=	NP_001121189.2:n.5112+19T=
NM_001127718.2:c.285+19T=	NP_001121190.2:n.285+19T=
NM_198129.2:c.5112+19T=	NP_937762.2:n.5112+19T=
XM_011525978.1:c.5139+19T=	XP_011524280.1:n.5139+19T=
XM_011525979.1:c.5130+19T=	XP_011524281.1:n.5130+19T=
XM_011525980.1:c.5121+19T=	XP_011524282.1:n.5121+19T=
XM_011525981.1:c.5007+19T=	XP_011524283.1:n.5007+19T=
XM_011525982.1:c.5139+19T=	XP_011524284.1:n.5139+19T=
XM_011525978.2:c.5139+19T=	XP_011524280.1:n.5139+19T=
XM_011525979.2:c.5130+19T=	XP_011524281.1:n.5130+19T=
XM_011525980.2:c.5121+19T=	XP_011524282.1:n.5121+19T=
XM_011525981.2:c.5007+19T=	XP_011524283.1:n.5007+19T=
XM_011525982.2:c.5139+19T=	XP_011524284.1:n.5139+19T=
XM_017025743.1:c.2991+19T=	XP_016881232.1:n.2991+19T=
XM_017025744.1:c.681+19T=	XP_016881233.1:n.681+19T=
XR_001753199.1:n.5380+19T=
NM_000227.5:c.285+19T=	NP_000218.3:n.285+19T=
NM_001127717.3:c.5112+19T=	NP_001121189.2:n.5112+19T=
NM_001127718.3:c.285+19T=	NP_001121190.2:n.285+19T=
NM_198129.3:c.5112+19T=	NP_937762.2:n.5112+19T=
NM_000227.6:c.285+19T= MANE Plus Clinical	NP_000218.3:n.285+19T=
NM_001127717.4:c.5112+19T=	NP_001121189.2:n.5112+19T=
NM_001127718.4:c.285+19T=	NP_001121190.2:n.285+19T=
NM_198129.4:c.5112+19T= MANE Select	NP_937762.2:n.5112+19T=