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_000019.10:g.11089402G>C , CM000681.2:g.11089402G>C	GRCh38
NC_000019.9:g.11200078G>C , CM000681.1:g.11200078G>C	GRCh37
NC_000019.8:g.11061078G>C	NCBI36
NG_009060.1:g.5022G>C , LRG_274:g.5022G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000558518.5:c.-147G>C (LDLR)	ENSP00000454071.1:n.-147G>C
NM_000527.4:c.-147G>C , LRG_274t1:c.-147G>C (LDLR)	NP_000518.1:n.-147G>C
NM_001195798.1:c.-147G>C (LDLR)	NP_001182727.1:n.-147G>C
NM_001195799.1:c.-147G>C (LDLR)	NP_001182728.1:n.-147G>C
NM_001195800.1:c.-147G>C (LDLR)	NP_001182729.1:n.-147G>C
NM_001195803.1:c.-147G>C (LDLR)	NP_001182732.1:n.-147G>C
XM_011528010.1:c.-147G>C (LDLR)	XP_011526312.1:n.-147G>C
XM_011528011.1:c.-147G>C (LDLR)	XP_011526313.1:n.-147G>C
XR_244074.2:n.4G>C (LDLR)
NR_163945.1:n.258C>G (LDLR-AS1)