Canonical Allele Identifier: CA2739279277
Gene: AGXT HGNC NCBI

Linked Data

ClinVar Variation Id: 2831445
ClinVar RCV Id: RCV003686595
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240878004G>A , CM000664.2:g.240878004G>A GRCh38
NC_000002.11:g.241817421G>A , CM000664.1:g.241817421G>A GRCh37
NC_000002.10:g.241466094G>A NCBI36
NG_008005.1:g.14260G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.943-18G>A MANE Select ENSP00000302620.3:n.943-18G>A
ENST00000307503.3:c.943-18G>A ENSP00000302620.3:n.943-18G>A
ENST00000470255.1:n.721-18G>A
NM_000030.2:c.943-18G>A NP_000021.1:n.943-18G>A
NM_000030.3:c.943-18G>A MANE Select NP_000021.1:n.943-18G>A
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