Canonical Allele Identifier: CA68181241
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs759683057
MyVariant Identifiers: chr2:g.241818627C>T (hg19) chr2:g.240879210C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240879210C>T , CM000664.2:g.240879210C>T GRCh38
NC_000002.11:g.241818627C>T , CM000664.1:g.241818627C>T GRCh37
NC_000002.10:g.241467300C>T NCBI36
NG_008005.1:g.15466C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.*389C>T MANE Select ENSP00000302620.3:n.*389C>T
ENST00000470255.1:n.1346C>T
NM_000030.3:c.*389C>T MANE Select NP_000021.1:n.*389C>T
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