Canonical Allele Identifier: CA351313937
Gene: AGXT HGNC NCBI

Linked Data

gnomAD v4: 2-240869345-A-T
MyVariant Identifiers: chr2:g.241808762A>T (hg19) chr2:g.240869345A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240869345A>T , CM000664.2:g.240869345A>T GRCh38
NC_000002.11:g.241808762A>T , CM000664.1:g.241808762A>T GRCh37
NC_000002.10:g.241457435A>T NCBI36
NG_008005.1:g.5601A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.341A>T MANE Select ENSP00000302620.3:p.Asp114Val
ENST00000307503.3:c.341A>T ENSP00000302620.3:p.Asp114Val
ENST00000472436.1:n.361A>T
NM_000030.2:c.341A>T NP_000021.1:p.Asp114Val
XR_924060.1:n.405+888T>A
NM_000030.3:c.341A>T MANE Select NP_000021.1:p.Asp114Val
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