Canonical Allele Identifier: CA363277288

Gene: NRSN1

Linked Data

• MyVariant Identifiers: chr6:g.24146133T>A (hg19) ; chr6:g.24145905T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24145905T>A , CM000668.2:g.24145905T>A	GRCh38
NC_000006.11:g.24146133T>A , CM000668.1:g.24146133T>A	GRCh37
NC_000006.10:g.24254112T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378491.9:c.547T>A MANE Select	ENSP00000367752.4:p.Leu183Met
ENST00000378478.5:c.547T>A	ENSP00000367739.2:p.Leu183Met
ENST00000378491.8:c.547T>A	ENSP00000367752.4:p.Leu183Met
ENST00000468195.2:n.257-8866T>A
NM_080723.4:c.547T>A	NP_542454.3:p.Leu183Met
NM_080723.5:c.547T>A MANE Select	NP_542454.3:p.Leu183Met