Canonical Allele Identifier: CA1044070022

Gene: AGXT

Linked Data

• dbSNP Id: rs2059028512
• gnomAD v4: 2-240877109-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240877109T>C , CM000664.2:g.240877109T>C	GRCh38
NC_000002.11:g.241816526T>C , CM000664.1:g.241816526T>C	GRCh37
NC_000002.10:g.241465199T>C	NCBI36
NG_008005.1:g.13365T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307503.4:c.847-428T>C MANE Select	ENSP00000302620.3:n.847-428T>C
ENST00000307503.3:c.847-428T>C	ENSP00000302620.3:n.847-428T>C
ENST00000470255.1:n.197T>C
NM_000030.2:c.847-428T>C	NP_000021.1:n.847-428T>C
NM_000030.3:c.847-428T>C MANE Select	NP_000021.1:n.847-428T>C