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: CA136813267

Gene: MUC22 HGNC NCBI

Linked Data

dbSNP Id: rs545010990

gnomAD v3: 6-31008345-A-C

MyVariant Identifiers: chr6:g.30976122A>C (hg19) chr6:g.31008345A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31008345A>C , CM000668.2:g.31008345A>C	GRCh38
NC_000006.11:g.30976122A>C , CM000668.1:g.30976122A>C	GRCh37
NC_000006.10:g.31084101A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
NM_001198815.1:c.-38+2212A>C	NP_001185744.1:n.-38+2212A>C
NM_001318484.1:c.7+2212A>C	NP_001305413.1:n.7+2212A>C

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