Canonical Allele Identifier: CA68173518
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs779013628
gnomAD v4: 2-240868969-C-A
MyVariant Identifiers: chr2:g.241808386C>A (hg19) chr2:g.240868969C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240868969C>A , CM000664.2:g.240868969C>A GRCh38
NC_000002.11:g.241808386C>A , CM000664.1:g.241808386C>A GRCh37
NC_000002.10:g.241457059C>A NCBI36
NG_008005.1:g.5225C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.104C>A MANE Select ENSP00000302620.3:p.Pro35His
ENST00000307503.3:c.104C>A ENSP00000302620.3:p.Pro35His
ENST00000472436.1:n.124C>A
NM_000030.2:c.104C>A NP_000021.1:p.Pro35His
XR_924060.1:n.405+1264G>T
NM_000030.3:c.104C>A MANE Select NP_000021.1:p.Pro35His
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