Canonical Allele Identifier: CA68181235
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs528750139
gnomAD v2: 2-241818608-T-C
gnomAD v3: 2-240879191-T-C
gnomAD v4: 2-240879191-T-C
MyVariant Identifiers: chr2:g.241818608T>C (hg19) chr2:g.240879191T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240879191T>C , CM000664.2:g.240879191T>C GRCh38
NC_000002.11:g.241818608T>C , CM000664.1:g.241818608T>C GRCh37
NC_000002.10:g.241467281T>C NCBI36
NG_008005.1:g.15447T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.*370T>C MANE Select ENSP00000302620.3:n.*370T>C
ENST00000470255.1:n.1327T>C
NM_000030.3:c.*370T>C MANE Select NP_000021.1:n.*370T>C
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