Allele Registry

WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.113043623G>A , CM000667.2:g.113043623G>A	GRCh38
NC_000005.9:g.112379320G>A , CM000667.1:g.112379320G>A	GRCh37
NC_000005.8:g.112407219G>A	NCBI36
NG_012265.1:g.450208C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000302475.9:c.2093C>T	ENSP00000305617.4:p.Ala698Val
ENST00000408903.7:c.2663C>T MANE Select	ENSP00000386227.3:p.Ala888Val
ENST00000302475.8:c.2093C>T	ENSP00000305617.4:p.Ala698Val
ENST00000408903.6:c.2663C>T	ENSP00000386227.3:p.Ala888Val
ENST00000515367.6:c.1904C>T	ENSP00000421615.2:p.Ala635Val
NM_001085377.1:c.2663C>T	NP_001078846.1:p.Ala888Val
NM_002387.2:c.2093C>T	NP_002378.1:p.Ala698Val
XM_005271991.2:c.2159C>T	XP_005272048.1:p.Ala720Val
XM_005271991.3:c.2159C>T	XP_005272048.1:p.Ala720Val
XM_017009473.1:c.2729C>T	XP_016864962.1:p.Ala910Val
XM_017009474.1:c.2129C>T	XP_016864963.1:p.Ala710Val
XM_024446049.1:c.1970C>T	XP_024301817.1:p.Ala657Val
XM_024446050.1:c.1970C>T	XP_024301818.1:p.Ala657Val
XM_024446051.1:c.1970C>T	XP_024301819.1:p.Ala657Val
XM_024446052.1:c.1970C>T	XP_024301820.1:p.Ala657Val
NM_001085377.2:c.2663C>T MANE Select	NP_001078846.2:p.Ala888Val
NM_002387.3:c.2093C>T	NP_002378.2:p.Ala698Val

Linked Data

Genomic Alleles

Transcript Alleles