Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23876246A= , CM000680.2:g.23876246A=	GRCh38
NC_000018.9:g.21456210A= , CM000680.1:g.21456210A=	GRCh37
NC_000018.8:g.19710208A=	NCBI36
NG_007853.2:g.191649A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000269217.11:c.172-48A= MANE Plus Clinical	ENSP00000269217.5:n.172-48A=
ENST00000313654.14:c.4999-48A= MANE Select	ENSP00000324532.8:n.4999-48A=
ENST00000649721.1:c.1891-48A=	ENSP00000497885.1:n.1891-48A=
ENST00000269217.10:c.172-48A=	ENSP00000269217.5:n.172-48A=
ENST00000313654.13:c.4999-48A=	ENSP00000324532.8:n.4999-48A=
ENST00000399516.7:c.4999-48A=	ENSP00000382432.2:n.4999-48A=
ENST00000587184.5:c.172-48A=	ENSP00000466557.1:n.172-48A=
NM_000227.4:c.172-48A=	NP_000218.3:n.172-48A=
NM_001127717.2:c.4999-48A=	NP_001121189.2:n.4999-48A=
NM_001127718.2:c.172-48A=	NP_001121190.2:n.172-48A=
NM_198129.2:c.4999-48A=	NP_937762.2:n.4999-48A=
XM_011525978.1:c.5026-48A=	XP_011524280.1:n.5026-48A=
XM_011525979.1:c.5017-48A=	XP_011524281.1:n.5017-48A=
XM_011525980.1:c.5008-48A=	XP_011524282.1:n.5008-48A=
XM_011525981.1:c.4894-48A=	XP_011524283.1:n.4894-48A=
XM_011525982.1:c.5026-48A=	XP_011524284.1:n.5026-48A=
XM_011525978.2:c.5026-48A=	XP_011524280.1:n.5026-48A=
XM_011525979.2:c.5017-48A=	XP_011524281.1:n.5017-48A=
XM_011525980.2:c.5008-48A=	XP_011524282.1:n.5008-48A=
XM_011525981.2:c.4894-48A=	XP_011524283.1:n.4894-48A=
XM_011525982.2:c.5026-48A=	XP_011524284.1:n.5026-48A=
XM_017025743.1:c.2878-48A=	XP_016881232.1:n.2878-48A=
XM_017025744.1:c.568-48A=	XP_016881233.1:n.568-48A=
XR_001753199.1:n.5267-48A=
NM_000227.5:c.172-48A=	NP_000218.3:n.172-48A=
NM_001127717.3:c.4999-48A=	NP_001121189.2:n.4999-48A=
NM_001127718.3:c.172-48A=	NP_001121190.2:n.172-48A=
NM_198129.3:c.4999-48A=	NP_937762.2:n.4999-48A=
NM_000227.6:c.172-48A= MANE Plus Clinical	NP_000218.3:n.172-48A=
NM_001127717.4:c.4999-48A=	NP_001121189.2:n.4999-48A=
NM_001127718.4:c.172-48A=	NP_001121190.2:n.172-48A=
NM_198129.4:c.4999-48A= MANE Select	NP_937762.2:n.4999-48A=