Canonical Allele Identifier: CA540752887

Gene: AGXT

Linked Data

• dbSNP Id: rs1457767927
• gnomAD v2: 2-241808525-C-T
• gnomAD v3: 2-240869108-C-T
• gnomAD v4: 2-240869108-C-T
• MyVariant Identifiers: chr2:g.241808525C>T (hg19) ; chr2:g.240869108C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240869108C>T , CM000664.2:g.240869108C>T	GRCh38
NC_000002.11:g.241808525C>T , CM000664.1:g.241808525C>T	GRCh37
NC_000002.10:g.241457198C>T	NCBI36
NG_008005.1:g.5364C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000307503.4:c.166-62C>T MANE Select	ENSP00000302620.3:n.166-62C>T
ENST00000307503.3:c.166-62C>T	ENSP00000302620.3:n.166-62C>T
ENST00000472436.1:n.186-62C>T
NM_000030.2:c.166-62C>T	NP_000021.1:n.166-62C>T
XR_924060.1:n.405+1125G>A
NM_000030.3:c.166-62C>T MANE Select	NP_000021.1:n.166-62C>T