Canonical Allele Identifier: CA1339336044
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs2059040538

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240878527G>C , CM000664.2:g.240878527G>C GRCh38
NC_000002.11:g.241817944G>C , CM000664.1:g.241817944G>C GRCh37
NC_000002.10:g.241466617G>C NCBI36
NG_008005.1:g.14783G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.1072-187G>C MANE Select ENSP00000302620.3:n.1072-187G>C
ENST00000307503.3:c.1072-187G>C ENSP00000302620.3:n.1072-187G>C
ENST00000470255.1:n.850-187G>C
NM_000030.2:c.1072-187G>C NP_000021.1:n.1072-187G>C
NM_000030.3:c.1072-187G>C MANE Select NP_000021.1:n.1072-187G>C