Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32181239C>T , CM000668.2:g.32181239C>T	GRCh38
NC_000006.11:g.32149016C>T , CM000668.1:g.32149016C>T	GRCh37
NC_000006.10:g.32256994C>T	NCBI36
NG_029868.1:g.8084G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375076.9:c.1119G>A MANE Select	ENSP00000364217.4:p.Arg373=
ENST00000375055.6:c.*30G>A	ENSP00000364195.2:n.*30G>A
ENST00000375065.6:c.306G>A	ENSP00000364206.6:p.Arg102=
ENST00000375067.7:c.964G>A	ENSP00000364208.3:p.Glu322Lys
ENST00000375069.7:c.1167G>A	ENSP00000364210.4:p.Arg389=
ENST00000375070.7:c.789G>A	ENSP00000364211.4:p.Arg263=
ENST00000375076.8:c.1119G>A	ENSP00000364217.4:p.Arg373=
ENST00000438221.6:c.*30G>A	ENSP00000387887.2:n.*30G>A
ENST00000469940.5:n.286G>A
ENST00000473619.5:n.661G>A
ENST00000484849.5:n.1326G>A
ENST00000488669.5:n.616G>A
ENST00000620802.4:c.366G>A	ENSP00000484081.1:p.Arg122=
NM_001136.4:c.1119G>A	NP_001127.1:p.Arg373=
NM_001206929.1:c.1167G>A	NP_001193858.1:p.Arg389=
NM_001206932.1:c.1077G>A	NP_001193861.1:p.Arg359=
NM_001206934.1:c.*30G>A	NP_001193863.1:n.*30G>A
NM_001206936.1:c.1022G>A	NP_001193865.1:p.Gly341Glu
NM_001206940.1:c.*30G>A	NP_001193869.1:n.*30G>A
NM_001206954.1:c.932G>A	NP_001193883.1:p.Gly311Glu
NM_001206966.1:c.*30-98G>A	NP_001193895.1:n.*30-98G>A
NM_172197.2:c.964G>A	NP_751947.1:p.Glu322Lys
NR_038190.1:n.1402G>A
XM_017010328.2:c.1073G>A	XP_016865817.1:p.Gly358Glu
XR_001743189.2:n.1183G>A
XR_001743190.2:n.1135G>A
NM_001136.5:c.1119G>A MANE Select	NP_001127.1:p.Arg373=
NM_001206932.2:c.1077G>A	NP_001193861.1:p.Arg359=
NM_001206936.2:c.1022G>A	NP_001193865.1:p.Gly341Glu
NM_001206940.2:c.*30G>A	NP_001193869.1:n.*30G>A
NM_001206954.2:c.932G>A	NP_001193883.1:p.Gly311Glu
NM_001206966.2:c.*30-98G>A	NP_001193895.1:n.*30-98G>A
NM_172197.3:c.964G>A	NP_751947.1:p.Glu322Lys
NR_038190.2:n.1333G>A
NM_001206929.2:c.1167G>A	NP_001193858.1:p.Arg389=
NM_001206934.2:c.*30G>A	NP_001193863.1:n.*30G>A

Linked Data

Genomic Alleles

Transcript Alleles