Canonical Allele Identifier: CA68173811
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs145135990
MyVariant Identifiers: chr2:g.241808664G>C (hg19) chr2:g.240869247G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240869247G>C , CM000664.2:g.240869247G>C GRCh38
NC_000002.11:g.241808664G>C , CM000664.1:g.241808664G>C GRCh37
NC_000002.10:g.241457337G>C NCBI36
NG_008005.1:g.5503G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.243G>C MANE Select ENSP00000302620.3:p.Ser81=
ENST00000307503.3:c.243G>C ENSP00000302620.3:p.Ser81=
ENST00000472436.1:n.263G>C
NM_000030.2:c.243G>C NP_000021.1:p.Ser81=
XR_924060.1:n.405+986C>G
NM_000030.3:c.243G>C MANE Select NP_000021.1:p.Ser81=
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