Canonical Allele Identifier: CA275816
Gene: AGXT HGNC NCBI

Linked Data

ClinVar Variation Id: 204175
ClinVar RCV Id: RCV000186382
dbSNP Id: rs180177166

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240868981_240868982dup , CM000664.2:g.240868981_240868982dup GRCh38
NC_000002.11:g.241808398_241808399dup , CM000664.1:g.241808398_241808399dup GRCh37
NC_000002.10:g.241457071_241457072dup NCBI36
NG_008005.1:g.5237_5238dup

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.116_117dup MANE Select ENSP00000302620.3:p.Ala40GlnfsTer7
ENST00000307503.3:c.116_117dup ENSP00000302620.3:p.Ala40GlnfsTer7
ENST00000472436.1:n.136_137dup
NM_000030.2:c.116_117dup NP_000021.1:p.Ala40GlnfsTer7
XR_924060.1:n.405+1251_405+1252dup
NM_000030.3:c.116_117dup MANE Select NP_000021.1:p.Ala40GlnfsTer7