Canonical Allele Identifier: CA351315561
Gene: AGXT HGNC NCBI

Linked Data

gnomAD v4: 2-240871353-T-C
MyVariant Identifiers: chr2:g.241810770T>C (hg19) chr2:g.240871353T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240871353T>C , CM000664.2:g.240871353T>C GRCh38
NC_000002.11:g.241810770T>C , CM000664.1:g.241810770T>C GRCh37
NC_000002.10:g.241459443T>C NCBI36
NG_008005.1:g.7609T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.428T>C MANE Select ENSP00000302620.3:p.Leu143Pro
ENST00000307503.3:c.428T>C ENSP00000302620.3:p.Leu143Pro
ENST00000472436.1:n.448T>C
ENST00000476698.1:n.165T>C
NM_000030.2:c.428T>C NP_000021.1:p.Leu143Pro
NM_000030.3:c.428T>C MANE Select NP_000021.1:p.Leu143Pro
Search 100 bp 5'
Search 100 bp 3'