Canonical Allele Identifier: CA1044064699

Gene: AGXT

Linked Data

• dbSNP Id: rs2058976704
• gnomAD v3: 2-240869038-T-C
• gnomAD v4: 2-240869038-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240869038T>C , CM000664.2:g.240869038T>C	GRCh38
NC_000002.11:g.241808455T>C , CM000664.1:g.241808455T>C	GRCh37
NC_000002.10:g.241457128T>C	NCBI36
NG_008005.1:g.5294T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000307503.4:c.165+8T>C MANE Select	ENSP00000302620.3:n.165+8T>C
ENST00000307503.3:c.165+8T>C	ENSP00000302620.3:n.165+8T>C
ENST00000472436.1:n.185+8T>C
NM_000030.2:c.165+8T>C	NP_000021.1:n.165+8T>C
XR_924060.1:n.405+1195A>G
NM_000030.3:c.165+8T>C MANE Select	NP_000021.1:n.165+8T>C