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.36677876A>T , CM000668.2:g.36677876A>T	GRCh38
NC_000006.11:g.36645653A>T , CM000668.1:g.36645653A>T	GRCh37
NC_000006.10:g.36753631A>T	NCBI36
NG_009364.1:g.4195A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000448526.6:c.-37-26A>T (CDKN1A)	ENSP00000409259.3:n.-37-26A>T
ENST00000459970.1:n.132A>T (CDKN1A)
ENST00000615513.4:c.-6+1352A>T (CDKN1A)	ENSP00000482768.1:n.-6+1352A>T
NM_001220777.1:c.-6+1352A>T (CDKN1A)	NP_001207706.1:n.-6+1352A>T
NM_001291549.1:c.40A>T (CDKN1A)	NP_001278478.1:p.Asn14Tyr
NM_078467.2:c.-37-26A>T (CDKN1A)	NP_510867.1:n.-37-26A>T
NR_144384.1:n.684T>A (DINOL)
NM_001220777.2:c.-6+1352A>T (CDKN1A)	NP_001207706.1:n.-6+1352A>T
NM_001291549.3:c.40A>T (CDKN1A)	NP_001278478.1:p.Asn14Tyr
NM_001374509.1:c.40A>T (CDKN1A)	NP_001361438.1:p.Asn14Tyr
NM_001374510.1:c.34+1306A>T (CDKN1A)	NP_001361439.1:n.34+1306A>T
NM_078467.3:c.-37-26A>T (CDKN1A)	NP_510867.1:n.-37-26A>T