Canonical Allele Identifier: CA351312870
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs1400902861
MyVariant Identifiers: chr2:g.241808340A>C (hg19) chr2:g.240868923A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240868923A>C , CM000664.2:g.240868923A>C GRCh38
NC_000002.11:g.241808340A>C , CM000664.1:g.241808340A>C GRCh37
NC_000002.10:g.241457013A>C NCBI36
NG_008005.1:g.5179A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.58A>C MANE Select ENSP00000302620.3:p.Ile20Leu
ENST00000307503.3:c.58A>C ENSP00000302620.3:p.Ile20Leu
ENST00000472436.1:n.78A>C
NM_000030.2:c.58A>C NP_000021.1:p.Ile20Leu
XR_924060.1:n.405+1310T>G
NM_000030.3:c.58A>C MANE Select NP_000021.1:p.Ile20Leu
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