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.

Canonical Allele Identifier: CA684581694

Gene: LRRC43 HGNC NCBI
IL31 HGNC NCBI

Linked Data

dbSNP Id: rs750846955

gnomAD v3: 12-122176303-C-G

gnomAD v4: 12-122176303-C-G

MyVariant Identifiers: chr12:g.122660850C>G (hg19) chr12:g.122176303C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.122176303C>G , CM000674.2:g.122176303C>G	GRCh38
NC_000012.11:g.122660850C>G , CM000674.1:g.122660850C>G	GRCh37
NC_000012.10:g.121226803C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000537729.5:c.-405-8216C>G (LRRC43)	ENSP00000438751.1:n.-405-8216C>G
NM_152759.4:c.-405-8216C>G (LRRC43)	NP_689972.3:n.-405-8216C>G
XM_011538326.1:c.-65-2066G>C (IL31)	XP_011536628.1:n.-65-2066G>C
NM_152759.5:c.-405-8216C>G (LRRC43)	NP_689972.3:n.-405-8216C>G

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