Canonical Allele Identifier: CA2664006410

Gene: AGXT

Linked Data

• gnomAD v4: 2-240873392-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240873392A>C , CM000664.2:g.240873392A>C	GRCh38
NC_000002.11:g.241812809A>C , CM000664.1:g.241812809A>C	GRCh37
NC_000002.10:g.241461482A>C	NCBI36
NG_008005.1:g.9648A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307503.4:c.595+343A>C MANE Select	ENSP00000302620.3:n.595+343A>C
ENST00000307503.3:c.595+343A>C	ENSP00000302620.3:n.595+343A>C
ENST00000472436.1:n.958A>C
ENST00000476698.1:n.332+343A>C
NM_000030.2:c.595+343A>C	NP_000021.1:n.595+343A>C
NM_000030.3:c.595+343A>C MANE Select	NP_000021.1:n.595+343A>C