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: CA228572294

Gene:

Linked Data

dbSNP Id: rs534183218

gnomAD v3: 11-112166864-T-C

gnomAD v4: 11-112166864-T-C

MyVariant Identifiers: chr11:g.112037587T>C (hg19) chr11:g.112166864T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112166864T>C , CM000673.2:g.112166864T>C	GRCh38
NC_000011.9:g.112037587T>C , CM000673.1:g.112037587T>C	GRCh37
NC_000011.8:g.111542797T>C	NCBI36
NG_028143.1:g.2254A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000525987.5:n.320-3555T>C
ENST00000531744.5:c.315-3555T>C	ENSP00000456957.1:n.315-3555T>C
ENST00000532699.1:c.315-3555T>C	ENSP00000456434.1:n.315-3555T>C

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