Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49104509A= , CM000665.2:g.49104509A=	GRCh38
NC_000003.11:g.49141942A= , CM000665.1:g.49141942A=	GRCh37
NC_000003.10:g.49116946A=	NCBI36
NG_042312.1:g.5621T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000306125.12:c.118-38T= MANE Select	ENSP00000307567.6:n.118-38T=
ENST00000306125.11:c.118-38T=	ENSP00000307567.6:n.118-38T=
ENST00000414533.5:c.118-38T=	ENSP00000390015.1:n.118-38T=
ENST00000417025.2:n.144-38T=
ENST00000418549.3:c.118-38T=	ENSP00000415247.1:n.118-38T=
ENST00000430182.5:c.118-38T=	ENSP00000389823.1:n.118-38T=
ENST00000452739.5:c.118-38T=	ENSP00000392850.2:n.118-38T=
ENST00000464962.6:c.-356T=	ENSP00000489011.1:n.-356T=
ENST00000470619.6:n.137-38T=
ENST00000479495.5:n.98-38T=
ENST00000482261.7:n.194-38T=
ENST00000482438.2:n.144-38T=
ENST00000494767.2:c.118-38T=	ENSP00000489170.1:n.118-38T=
ENST00000634359.1:n.198-38T=
ENST00000634527.1:c.-318-38T=	ENSP00000489039.1:n.-318-38T=
ENST00000634602.1:c.118-38T=	ENSP00000489082.1:n.118-38T=
ENST00000634609.1:n.143-38T=
ENST00000634724.1:n.142-38T=
ENST00000634802.1:c.117+108T=	ENSP00000488917.1:n.117+108T=
ENST00000634953.1:n.145-38T=
ENST00000635052.1:c.118-38T=	ENSP00000489409.1:n.118-38T=
ENST00000635194.1:c.118-44T=	ENSP00000488960.1:n.118-44T=
ENST00000635231.1:c.82-38T=	ENSP00000489550.1:n.82-38T=
ENST00000635278.1:n.142-38T=
ENST00000635375.1:n.24T=
ENST00000635443.1:c.118-38T=	ENSP00000489154.1:n.118-38T=
ENST00000635494.1:c.118-38T=	ENSP00000489331.1:n.118-38T=
ENST00000635501.1:n.508-38T=
ENST00000635541.1:c.-384T=	ENSP00000489365.1:n.-384T=
ENST00000635622.1:c.-346-38T=	ENSP00000489558.1:n.-346-38T=
NM_001272073.1:c.118-38T=	NP_001259002.1:n.118-38T=
NM_005051.2:c.118-38T=	NP_005042.1:n.118-38T=
NR_073590.1:n.514-38T=
XM_011533973.1:c.172-38T=	XP_011532275.1:n.172-38T=
XM_017006965.2:c.118-38T=	XP_016862454.2:n.118-38T=
NM_005051.3:c.118-38T= MANE Select	NP_005042.1:n.118-38T=
NM_001272073.2:c.118-38T=	NP_001259002.1:n.118-38T=
NR_073590.2:n.142-38T=