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_000006.12:g.36677861A>C , CM000668.2:g.36677861A>C	GRCh38
NC_000006.11:g.36645638A>C , CM000668.1:g.36645638A>C	GRCh37
NC_000006.10:g.36753616A>C	NCBI36
NG_009364.1:g.4180A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000448526.6:c.-37-41A>C (CDKN1A)	ENSP00000409259.3:n.-37-41A>C
ENST00000459970.1:n.117A>C (CDKN1A)
ENST00000615513.4:c.-6+1337A>C (CDKN1A)	ENSP00000482768.1:n.-6+1337A>C
NM_001220777.1:c.-6+1337A>C (CDKN1A)	NP_001207706.1:n.-6+1337A>C
NM_001291549.1:c.25A>C (CDKN1A)	NP_001278478.1:p.Thr9Pro
NM_078467.2:c.-37-41A>C (CDKN1A)	NP_510867.1:n.-37-41A>C
NR_144384.1:n.699T>G (DINOL)
NM_001220777.2:c.-6+1337A>C (CDKN1A)	NP_001207706.1:n.-6+1337A>C
NM_001291549.3:c.25A>C (CDKN1A)	NP_001278478.1:p.Thr9Pro
NM_001374509.1:c.25A>C (CDKN1A)	NP_001361438.1:p.Thr9Pro
NM_001374510.1:c.34+1291A>C (CDKN1A)	NP_001361439.1:n.34+1291A>C
NM_078467.3:c.-37-41A>C (CDKN1A)	NP_510867.1:n.-37-41A>C