Canonical Allele Identifier: CA351313152
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs1305673661
gnomAD v2: 2-241808398-C-A
gnomAD v4: 2-240868981-C-A
COSMIC: COSM6200689
MyVariant Identifiers: chr2:g.241808398C>A (hg19) chr2:g.240868981C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240868981C>A , CM000664.2:g.240868981C>A GRCh38
NC_000002.11:g.241808398C>A , CM000664.1:g.241808398C>A GRCh37
NC_000002.10:g.241457071C>A NCBI36
NG_008005.1:g.5237C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.116C>A MANE Select ENSP00000302620.3:p.Ala39Glu
ENST00000307503.3:c.116C>A ENSP00000302620.3:p.Ala39Glu
ENST00000472436.1:n.136C>A
NM_000030.2:c.116C>A NP_000021.1:p.Ala39Glu
XR_924060.1:n.405+1252G>T
NM_000030.3:c.116C>A MANE Select NP_000021.1:p.Ala39Glu
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