Canonical Allele Identifier: CA351318232
Gene: AGXT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240875185T>G , CM000664.2:g.240875185T>G GRCh38
NC_000002.11:g.241814602T>G , CM000664.1:g.241814602T>G GRCh37
NC_000002.10:g.241463275T>G NCBI36
NG_008005.1:g.11441T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.757T>G MANE Select ENSP00000302620.3:p.Cys253Gly
ENST00000307503.3:c.757T>G ENSP00000302620.3:p.Cys253Gly
ENST00000476698.1:n.409T>G
NM_000030.2:c.757T>G NP_000021.1:p.Cys253Gly
NM_000030.3:c.757T>G MANE Select NP_000021.1:p.Cys253Gly