Canonical Allele Identifier: CA363277343

Gene: NRSN1

Linked Data

• MyVariant Identifiers: chr6:g.24146158C>T (hg19) ; chr6:g.24145930C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24145930C>T , CM000668.2:g.24145930C>T	GRCh38
NC_000006.11:g.24146158C>T , CM000668.1:g.24146158C>T	GRCh37
NC_000006.10:g.24254137C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378491.9:c.572C>T MANE Select	ENSP00000367752.4:p.Pro191Leu
ENST00000378478.5:c.572C>T	ENSP00000367739.2:p.Pro191Leu
ENST00000378491.8:c.572C>T	ENSP00000367752.4:p.Pro191Leu
ENST00000468195.2:n.257-8841C>T
NM_080723.4:c.572C>T	NP_542454.3:p.Pro191Leu
NM_080723.5:c.572C>T MANE Select	NP_542454.3:p.Pro191Leu