Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40237961C= , CM000681.2:g.40237961C=	GRCh38
NC_000019.9:g.40743868C= , CM000681.1:g.40743868C=	GRCh37
NC_000019.8:g.45435708C=	NCBI36
NG_012038.2:g.52398G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392038.7:c.831+8G= MANE Select	ENSP00000375892.2:n.831+8G=
ENST00000578615.6:c.710+8G=
ENST00000311278.10:c.831+8G=	ENSP00000309428.6:n.831+8G=
ENST00000391844.8:c.*445+8G=	ENSP00000375719.4:n.*445+8G=
ENST00000391845.6:n.296+8G=
ENST00000392038.6:c.831+8G=	ENSP00000375892.2:n.831+8G=
ENST00000424901.5:c.831+8G=	ENSP00000399532.2:n.831+8G=
ENST00000476266.5:n.1159+8G=
ENST00000480878.6:n.258+8G=
ENST00000483166.5:n.727G=
ENST00000496089.6:n.98+8G=
ENST00000578282.5:n.224+8G=
ENST00000578310.1:c.75-1576G=
ENST00000578615.5:c.399+8G=	ENSP00000463262.1:n.399+8G=
ENST00000579047.5:c.645+8G=	ENSP00000471369.1:n.645+8G=
ENST00000579345.5:n.351+8G=
ENST00000580878.1:n.488+8G=
ENST00000584288.5:c.*445+8G=	ENSP00000462469.1:n.*445+8G=
NM_001243027.2:c.645+8G=	NP_001229956.1:n.645+8G=
NM_001243028.2:c.645+8G=	NP_001229957.1:n.645+8G=
NM_001626.5:c.831+8G=	NP_001617.1:n.831+8G=
XM_011526614.1:c.831+8G=	XP_011524916.1:n.831+8G=
XM_011526615.1:c.831+8G=	XP_011524917.1:n.831+8G=
XM_011526616.1:c.831+8G=	XP_011524918.1:n.831+8G=
XM_011526617.1:c.831+8G=	XP_011524919.1:n.831+8G=
XM_011526618.1:c.831+8G=	XP_011524920.1:n.831+8G=
XM_011526619.1:c.831+8G=	XP_011524921.1:n.831+8G=
XM_011526620.1:c.831+8G=	XP_011524922.1:n.831+8G=
XM_011526621.1:c.831+8G=	XP_011524923.1:n.831+8G=
XM_011526622.1:c.831+8G=	XP_011524924.1:n.831+8G=
NM_001330511.1:c.831+8G=	NP_001317440.1:n.831+8G=
XM_011526622.2:c.831+8G=	XP_011524924.1:n.831+8G=
XM_017026470.2:c.831+8G=	XP_016881959.1:n.831+8G=
XM_024451416.1:c.831+8G=	XP_024307184.1:n.831+8G=
XM_024451417.1:c.831+8G=	XP_024307185.1:n.831+8G=
NM_001626.6:c.831+8G= MANE Select	NP_001617.1:n.831+8G=
NM_001243027.3:c.645+8G=	NP_001229956.1:n.645+8G=
NM_001243028.3:c.645+8G=	NP_001229957.1:n.645+8G=