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: CA671767181

Gene:

Linked Data

dbSNP Id: rs1324571588

gnomAD v3: 11-112166747-A-C

gnomAD v4: 11-112166747-A-C

MyVariant Identifiers: chr11:g.112037470A>C (hg19) chr11:g.112166747A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112166747A>C , CM000673.2:g.112166747A>C	GRCh38
NC_000011.9:g.112037470A>C , CM000673.1:g.112037470A>C	GRCh37
NC_000011.8:g.111542680A>C	NCBI36
NG_028143.1:g.2371T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000525987.5:n.320-3672A>C
ENST00000531744.5:c.315-3672A>C	ENSP00000456957.1:n.315-3672A>C
ENST00000532699.1:c.315-3672A>C	ENSP00000456434.1:n.315-3672A>C

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