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: CA820491991

Gene: SAMD5 HGNC NCBI

Linked Data

dbSNP Id: rs1396944824

gnomAD v3: 6-147795837-T-C

gnomAD v4: 6-147795837-T-C

MyVariant Identifiers: chr6:g.148116973T>C (hg19) chr6:g.147795837T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.147795837T>C , CM000668.2:g.147795837T>C	GRCh38
NC_000006.11:g.148116973T>C , CM000668.1:g.148116973T>C	GRCh37
NC_000006.10:g.148158666T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XM_017010850.1:c.460-151635T>C	XP_016866339.1:n.460-151635T>C

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