Canonical Allele Identifier: CA1044069303

Gene: AGXT

Linked Data

• dbSNP Id: rs2059021620
• gnomAD v3: 2-240875811-T-C
• gnomAD v4: 2-240875811-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240875811T>C , CM000664.2:g.240875811T>C	GRCh38
NC_000002.11:g.241815228T>C , CM000664.1:g.241815228T>C	GRCh37
NC_000002.10:g.241463901T>C	NCBI36
NG_008005.1:g.12067T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000307503.4:c.777-124T>C MANE Select	ENSP00000302620.3:n.777-124T>C
ENST00000307503.3:c.777-124T>C	ENSP00000302620.3:n.777-124T>C
ENST00000476698.1:n.429-124T>C
NM_000030.2:c.777-124T>C	NP_000021.1:n.777-124T>C
NM_000030.3:c.777-124T>C MANE Select	NP_000021.1:n.777-124T>C