Canonical Allele Identifier: CA432234772
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs1176113554
gnomAD v2: 2-241808327-C-G
gnomAD v4: 2-240868910-C-G
MyVariant Identifiers: chr2:g.241808327C>G (hg19) chr2:g.240868910C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240868910C>G , CM000664.2:g.240868910C>G GRCh38
NC_000002.11:g.241808327C>G , CM000664.1:g.241808327C>G GRCh37
NC_000002.10:g.241457000C>G NCBI36
NG_008005.1:g.5166C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.45C>G MANE Select ENSP00000302620.3:p.Leu15=
ENST00000307503.3:c.45C>G ENSP00000302620.3:p.Leu15=
ENST00000472436.1:n.65C>G
NM_000030.2:c.45C>G NP_000021.1:p.Leu15=
XR_924060.1:n.405+1323G>C
NM_000030.3:c.45C>G MANE Select NP_000021.1:p.Leu15=
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