Canonical Allele Identifier: CA448963124
Gene: NRSN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.24145922G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24145694G>C , CM000668.2:g.24145694G>C GRCh38
NC_000006.11:g.24145922G>C , CM000668.1:g.24145922G>C GRCh37
NC_000006.10:g.24253901G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000378491.9:c.336G>C MANE Select ENSP00000367752.4:p.Leu112=
ENST00000378477.2:c.336G>C ENSP00000367738.2:p.Leu112=
ENST00000378478.5:c.336G>C ENSP00000367739.2:p.Leu112=
ENST00000378491.8:c.336G>C ENSP00000367752.4:p.Leu112=
ENST00000468195.2:n.257-9077G>C
NM_080723.4:c.336G>C NP_542454.3:p.Leu112=
NM_080723.5:c.336G>C MANE Select NP_542454.3:p.Leu112=