Canonical Allele Identifier: CA766959706

Gene: AGXT

Linked Data

• dbSNP Id: rs1187690111
• gnomAD v3: 2-240868717-C-T
• gnomAD v4: 2-240868717-C-T
• MyVariant Identifiers: chr2:g.241808134C>T (hg19) ; chr2:g.240868717C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240868717C>T , CM000664.2:g.240868717C>T	GRCh38
NC_000002.11:g.241808134C>T , CM000664.1:g.241808134C>T	GRCh37
NC_000002.10:g.241456807C>T	NCBI36
NG_008005.1:g.4973C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307503.3:c.-149C>T	ENSP00000302620.3:n.-149C>T
XR_924060.1:n.405+1516G>A