Canonical Allele Identifier: CA447406848
Community Standard Title: NM_001012301.4(ARSI):c.1575T>C (p.Ser525=)
Gene: ARSI HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.150297349A>G , CM000667.2:g.150297349A>G GRCh38
NC_000005.9:g.149676912A>G , CM000667.1:g.149676912A>G GRCh37
NC_000005.8:g.149657105A>G NCBI36
NG_051250.1:g.10614T>C

Transcript Alleles

HGVS Amino-acid Change
NM_001012301.4:c.1575T>C MANE Select NP_001012301.1:p.Ser525=
ENST00000328668.8:c.1575T>C MANE Select ENSP00000333395.7:p.Ser525=
NM_001012301.2:c.1575T>C NP_001012301.1:p.Ser525=
NM_001012301.3:c.1575T>C NP_001012301.1:p.Ser525=
ENST00000328668.7:c.1575T>C ENSP00000333395.7:p.Ser525=
ENST00000515301.2:c.1146T>C ENSP00000426879.2:p.Ser382=