Canonical Allele Identifier: CA275798

Gene: AGXT

Linked Data

• ClinVar Variation Id: 204158
• ClinVar RCV Id: RCV000186365 ; RCV003556227
• dbSNP Id: rs180177265
• gnomAD v4: 2-240875205-G-C
• MyVariant Identifiers: chr2:g.241814622G>C (hg19) ; chr2:g.240875205G>C (hg38)
• PubMed: PMID:17460142

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240875205G>C , CM000664.2:g.240875205G>C	GRCh38
NC_000002.11:g.241814622G>C , CM000664.1:g.241814622G>C	GRCh37
NC_000002.10:g.241463295G>C	NCBI36
NG_008005.1:g.11461G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307503.4:c.776+1G>C MANE Select	ENSP00000302620.3:n.776+1G>C
ENST00000307503.3:c.776+1G>C	ENSP00000302620.3:n.776+1G>C
ENST00000476698.1:n.428+1G>C
NM_000030.2:c.776+1G>C	NP_000021.1:n.776+1G>C
NM_000030.3:c.776+1G>C MANE Select	NP_000021.1:n.776+1G>C