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: CA540752907

Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs1340548697

gnomAD v2: 2-241808195-T-C

gnomAD v3: 2-240868778-T-C

gnomAD v4: 2-240868778-T-C

MyVariant Identifiers: chr2:g.241808195T>C (hg19) chr2:g.240868778T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240868778T>C , CM000664.2:g.240868778T>C	GRCh38
NC_000002.11:g.241808195T>C , CM000664.1:g.241808195T>C	GRCh37
NC_000002.10:g.241456868T>C	NCBI36
NG_008005.1:g.5034T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000307503.3:c.-88T>C	ENSP00000302620.3:n.-88T>C
NM_000030.2:c.-88T>C	NP_000021.1:n.-88T>C
XR_924060.1:n.405+1455A>G

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