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.1443613T>G , CM000667.2:g.1443613T>G	GRCh38
NC_000005.9:g.1443728T>G , CM000667.1:g.1443728T>G	GRCh37
NC_000005.8:g.1496728T>G	NCBI36
NG_015885.1:g.6816A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000270349.12:c.-45-371A>C MANE Select	ENSP00000270349.9:n.-45-371A>C
ENST00000270349.11:c.-45-371A>C	ENSP00000270349.9:n.-45-371A>C
NM_001044.4:c.-45-371A>C	NP_001035.1:n.-45-371A>C
NM_001044.5:c.-45-371A>C MANE Select	NP_001035.1:n.-45-371A>C