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_000018.10:g.31546781G>C , CM000680.2:g.31546781G>C	GRCh38
NC_000018.9:g.29126744G>C , CM000680.1:g.29126744G>C	GRCh37
NC_000018.8:g.27380742G>C	NCBI36
NG_007072.3:g.53540G>C , LRG_397:g.53540G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000261590.13:c.*38G>C (DSG2) MANE Select	ENSP00000261590.8:n.*38G>C
ENST00000261590.12:c.*38G>C (DSG2)	ENSP00000261590.8:n.*38G>C
NM_001943.3:c.38G>C , LRG_397t1:c.38G>C (DSG2)	NP_001934.2:n.*38G>C
NR_045216.1:n.1346-875C>G (DSG2-AS1)
NM_001943.4:c.*38G>C (DSG2)	NP_001934.2:n.*38G>C
XM_024451095.1:c.*38G>C (DSG2)	XP_024306863.1:n.*38G>C
NM_001943.5:c.*38G>C (DSG2) MANE Select	NP_001934.2:n.*38G>C