Canonical Allele Identifier: CA1339331048

Gene: AGXT

Linked Data

• dbSNP Id: rs1393243638
• gnomAD v4: 2-240869397-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240869397T>C , CM000664.2:g.240869397T>C	GRCh38
NC_000002.11:g.241808814T>C , CM000664.1:g.241808814T>C	GRCh37
NC_000002.10:g.241457487T>C	NCBI36
NG_008005.1:g.5653T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307503.4:c.358+35T>C MANE Select	ENSP00000302620.3:n.358+35T>C
ENST00000307503.3:c.358+35T>C	ENSP00000302620.3:n.358+35T>C
ENST00000472436.1:n.378+35T>C
NM_000030.2:c.358+35T>C	NP_000021.1:n.358+35T>C
XR_924060.1:n.405+836A>G
NM_000030.3:c.358+35T>C MANE Select	NP_000021.1:n.358+35T>C