Canonical Allele Identifier: CA448950315
Gene: NRSN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.24146165G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24145937G>T , CM000668.2:g.24145937G>T GRCh38
NC_000006.11:g.24146165G>T , CM000668.1:g.24146165G>T GRCh37
NC_000006.10:g.24254144G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000378491.9:c.579G>T MANE Select ENSP00000367752.4:p.Leu193=
ENST00000378478.5:c.579G>T ENSP00000367739.2:p.Leu193=
ENST00000378491.8:c.579G>T ENSP00000367752.4:p.Leu193=
ENST00000468195.2:n.257-8834G>T
NM_080723.4:c.579G>T NP_542454.3:p.Leu193=
NM_080723.5:c.579G>T MANE Select NP_542454.3:p.Leu193=