Canonical Allele Identifier: CA2754892476
Gene: AGXT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240878631C>T , CM000664.2:g.240878631C>T GRCh38
NC_000002.11:g.241818048C>T , CM000664.1:g.241818048C>T GRCh37
NC_000002.10:g.241466721C>T NCBI36
NG_008005.1:g.14887C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.1072-83C>T MANE Select ENSP00000302620.3:n.1072-83C>T
ENST00000307503.3:c.1072-83C>T ENSP00000302620.3:n.1072-83C>T
ENST00000470255.1:n.850-83C>T
NM_000030.2:c.1072-83C>T NP_000021.1:n.1072-83C>T
NM_000030.3:c.1072-83C>T MANE Select NP_000021.1:n.1072-83C>T