Canonical Allele Identifier: CA3510206
Community Standard Title: NM_001012301.4(ARSI):c.934C>T (p.Arg312Ter)
Gene: ARSI HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.150297990G>A , CM000667.2:g.150297990G>A GRCh38
NC_000005.9:g.149677553G>A , CM000667.1:g.149677553G>A GRCh37
NC_000005.8:g.149657746G>A NCBI36
NG_051250.1:g.9973C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001012301.4:c.934C>T MANE Select NP_001012301.1:p.Arg312Ter
ENST00000328668.8:c.934C>T MANE Select ENSP00000333395.7:p.Arg312Ter
NM_001012301.2:c.934C>T NP_001012301.1:p.Arg312Ter
NM_001012301.3:c.934C>T NP_001012301.1:p.Arg312Ter
ENST00000328668.7:c.934C>T ENSP00000333395.7:p.Arg312Ter
ENST00000515301.2:c.505C>T ENSP00000426879.2:p.Arg169Ter