Canonical Allele Identifier: CA351313471
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs2058978215
gnomAD v4: 2-240869230-C-A
COSMIC: COSM316997
MyVariant Identifiers: chr2:g.241808647C>A (hg19) chr2:g.240869230C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240869230C>A , CM000664.2:g.240869230C>A GRCh38
NC_000002.11:g.241808647C>A , CM000664.1:g.241808647C>A GRCh37
NC_000002.10:g.241457320C>A NCBI36
NG_008005.1:g.5486C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.226C>A MANE Select ENSP00000302620.3:p.Leu76Met
ENST00000307503.3:c.226C>A ENSP00000302620.3:p.Leu76Met
ENST00000472436.1:n.246C>A
NM_000030.2:c.226C>A NP_000021.1:p.Leu76Met
XR_924060.1:n.405+1003G>T
NM_000030.3:c.226C>A MANE Select NP_000021.1:p.Leu76Met
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