Canonical Allele Identifier: CA351319743
Gene: AGXT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240878729C>A , CM000664.2:g.240878729C>A GRCh38
NC_000002.11:g.241818146C>A , CM000664.1:g.241818146C>A GRCh37
NC_000002.10:g.241466819C>A NCBI36
NG_008005.1:g.14985C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.1087C>A MANE Select ENSP00000302620.3:p.Leu363Met
ENST00000307503.3:c.1087C>A ENSP00000302620.3:p.Leu363Met
ENST00000470255.1:n.865C>A
NM_000030.2:c.1087C>A NP_000021.1:p.Leu363Met
NM_000030.3:c.1087C>A MANE Select NP_000021.1:p.Leu363Met