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: CA32777160

Gene: SERPINC1 HGNC NCBI

Linked Data

dbSNP Id: rs563362925

gnomAD v3: 1-173903799-A-G

gnomAD v4: 1-173903799-A-G

MyVariant Identifiers: chr1:g.173872937A>G (hg19) chr1:g.173903799A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173903799A>G , CM000663.2:g.173903799A>G	GRCh38
NC_000001.10:g.173872937A>G , CM000663.1:g.173872937A>G	GRCh37
NC_000001.9:g.172139560A>G	NCBI36
NG_012462.1:g.18580T>C , LRG_577:g.18580T>C

Transcript Alleles

HGVS	Amino-acid change
NM_001365052.1:c.*90T>C	NP_001351981.1:n.*90T>C

Search 100 bp 5'

Search 100 bp 3'