Canonical Allele Identifier: CA2577302081
Gene: AGXT HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240869043G>C , CM000664.2:g.240869043G>C GRCh38
NC_000002.11:g.241808460G>C , CM000664.1:g.241808460G>C GRCh37
NC_000002.10:g.241457133G>C NCBI36
NG_008005.1:g.5299G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.165+13G>C MANE Select ENSP00000302620.3:n.165+13G>C
ENST00000307503.3:c.165+13G>C ENSP00000302620.3:n.165+13G>C
ENST00000472436.1:n.185+13G>C
NM_000030.2:c.165+13G>C NP_000021.1:n.165+13G>C
XR_924060.1:n.405+1190C>G
NM_000030.3:c.165+13G>C MANE Select NP_000021.1:n.165+13G>C
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