Canonical Allele Identifier: CA448963172
Gene: NRSN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.24145989C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24145761C>T , CM000668.2:g.24145761C>T GRCh38
NC_000006.11:g.24145989C>T , CM000668.1:g.24145989C>T GRCh37
NC_000006.10:g.24253968C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000378491.9:c.403C>T MANE Select ENSP00000367752.4:p.Leu135=
ENST00000378477.2:c.403C>T ENSP00000367738.2:p.Leu135=
ENST00000378478.5:c.403C>T ENSP00000367739.2:p.Leu135=
ENST00000378491.8:c.403C>T ENSP00000367752.4:p.Leu135=
ENST00000468195.2:n.257-9010C>T
NM_080723.4:c.403C>T NP_542454.3:p.Leu135=
NM_080723.5:c.403C>T MANE Select NP_542454.3:p.Leu135=