Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: CA1044064500

Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs2058974172

gnomAD v3: 2-240868749-A-G

gnomAD v4: 2-240868749-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240868749A>G , CM000664.2:g.240868749A>G	GRCh38
NC_000002.11:g.241808166A>G , CM000664.1:g.241808166A>G	GRCh37
NC_000002.10:g.241456839A>G	NCBI36
NG_008005.1:g.5005A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307503.3:c.-117A>G	ENSP00000302620.3:n.-117A>G
NM_000030.2:c.-117A>G	NP_000021.1:n.-117A>G
XR_924060.1:n.405+1484T>C

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