Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32181548C>T , CM000668.2:g.32181548C>T	GRCh38
NC_000006.11:g.32149325C>T , CM000668.1:g.32149325C>T	GRCh37
NC_000006.10:g.32257303C>T	NCBI36
NG_029868.1:g.7775G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000375076.9:c.991+58G>A MANE Select	ENSP00000364217.4:n.991+58G>A
ENST00000375055.6:c.*5G>A	ENSP00000364195.2:n.*5G>A
ENST00000375065.6:c.178+58G>A	ENSP00000364206.6:n.178+58G>A
ENST00000375067.7:c.836+58G>A	ENSP00000364208.3:n.836+58G>A
ENST00000375069.7:c.1039+58G>A	ENSP00000364210.4:n.1039+58G>A
ENST00000375070.7:c.662-71G>A	ENSP00000364211.4:n.662-71G>A
ENST00000375076.8:c.991+58G>A	ENSP00000364217.4:n.991+58G>A
ENST00000438221.6:c.*5G>A	ENSP00000387887.2:n.*5G>A
ENST00000469940.5:n.88G>A
ENST00000473619.5:n.533+58G>A
ENST00000484849.5:n.1198+58G>A
ENST00000488669.5:n.591G>A
ENST00000620802.4:c.283-115G>A	ENSP00000484081.1:n.283-115G>A
NM_001136.4:c.991+58G>A	NP_001127.1:n.991+58G>A
NM_001206929.1:c.1039+58G>A	NP_001193858.1:n.1039+58G>A
NM_001206932.1:c.949+58G>A	NP_001193861.1:n.949+58G>A
NM_001206934.1:c.*5G>A	NP_001193863.1:n.*5G>A
NM_001206936.1:c.997G>A	NP_001193865.1:p.Gly333Arg
NM_001206940.1:c.*5G>A	NP_001193869.1:n.*5G>A
NM_001206954.1:c.907G>A	NP_001193883.1:p.Gly303Arg
NM_001206966.1:c.*5G>A	NP_001193895.1:n.*5G>A
NM_172197.2:c.836+58G>A	NP_751947.1:n.836+58G>A
NR_038190.1:n.1274+58G>A
XM_017010328.2:c.1048G>A	XP_016865817.1:p.Gly350Arg
XR_001743189.2:n.1055+58G>A
XR_001743190.2:n.1007+58G>A
NM_001136.5:c.991+58G>A MANE Select	NP_001127.1:n.991+58G>A
NM_001206932.2:c.949+58G>A	NP_001193861.1:n.949+58G>A
NM_001206936.2:c.997G>A	NP_001193865.1:p.Gly333Arg
NM_001206940.2:c.*5G>A	NP_001193869.1:n.*5G>A
NM_001206954.2:c.907G>A	NP_001193883.1:p.Gly303Arg
NM_001206966.2:c.*5G>A	NP_001193895.1:n.*5G>A
NM_172197.3:c.836+58G>A	NP_751947.1:n.836+58G>A
NR_038190.2:n.1205+58G>A
NM_001206929.2:c.1039+58G>A	NP_001193858.1:n.1039+58G>A
NM_001206934.2:c.*5G>A	NP_001193863.1:n.*5G>A

Linked Data

Genomic Alleles

Transcript Alleles