Canonical Allele Identifier: CA1044070047

Gene: AGXT

Linked Data

• dbSNP Id: rs997955168
• gnomAD v3: 2-240877175-T-C
• gnomAD v4: 2-240877175-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240877175T>C , CM000664.2:g.240877175T>C	GRCh38
NC_000002.11:g.241816592T>C , CM000664.1:g.241816592T>C	GRCh37
NC_000002.10:g.241465265T>C	NCBI36
NG_008005.1:g.13431T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307503.4:c.847-362T>C MANE Select	ENSP00000302620.3:n.847-362T>C
ENST00000307503.3:c.847-362T>C	ENSP00000302620.3:n.847-362T>C
ENST00000470255.1:n.263T>C
NM_000030.2:c.847-362T>C	NP_000021.1:n.847-362T>C
NM_000030.3:c.847-362T>C MANE Select	NP_000021.1:n.847-362T>C