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_000014.9:g.23431582C>G , CM000676.2:g.23431582C>G	GRCh38
NC_000014.8:g.23900791C>G , CM000676.1:g.23900791C>G	GRCh37
NC_000014.7:g.22970631C>G	NCBI36
NG_007884.1:g.9080G>C , LRG_384:g.9080G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000355349.4:c.732+3G>C MANE Select	ENSP00000347507.3:n.732+3G>C
ENST00000355349.3:c.732+3G>C	ENSP00000347507.3:n.732+3G>C
NM_000257.3:c.732+3G>C	NP_000248.2:n.732+3G>C
XR_245686.3:n.838+3G>C
XM_017021340.1:c.732+3G>C	XP_016876829.1:n.732+3G>C
NM_000257.4:c.732+3G>C MANE Select	NP_000248.2:n.732+3G>C