Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10142188G>A , CM000665.2:g.10142188G>A	GRCh38
NC_000003.11:g.10183872G>A , CM000665.1:g.10183872G>A	GRCh37
NC_000003.10:g.10158872G>A	NCBI36
NG_008212.3:g.5554G>A , LRG_322:g.5554G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.340+1G>A	ENSP00000512434.1:n.340+1G>A
ENST00000696143.1:c.340+1G>A	ENSP00000512435.1:n.340+1G>A
ENST00000696153.1:c.340+1G>A	ENSP00000512444.1:n.340+1G>A
ENST00000256474.3:c.340+1G>A MANE Select	ENSP00000256474.3:n.340+1G>A
ENST00000256474.2:c.340+1G>A	ENSP00000256474.2:n.340+1G>A
ENST00000345392.2:c.340+1G>A	ENSP00000344757.2:n.340+1G>A
NM_000551.3:c.340+1G>A , LRG_322t1:c.340+1G>A	NP_000542.1:n.340+1G>A
NM_198156.2:c.340+1G>A	NP_937799.1:n.340+1G>A
XM_011534078.1:c.340+1G>A	XP_011532380.1:n.340+1G>A
NM_001354723.1:c.340+1G>A	NP_001341652.1:n.340+1G>A
NM_000551.4:c.340+1G>A MANE Select	NP_000542.1:n.340+1G>A
NM_001354723.2:c.340+1G>A	NP_001341652.1:n.340+1G>A
NM_198156.3:c.340+1G>A	NP_937799.1:n.340+1G>A

Linked Data

Genomic Alleles

Transcript Alleles