Canonical Allele Identifier: CA448950318
Gene: NRSN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.24146168A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24145940A>T , CM000668.2:g.24145940A>T GRCh38
NC_000006.11:g.24146168A>T , CM000668.1:g.24146168A>T GRCh37
NC_000006.10:g.24254147A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000378491.9:c.582A>T MANE Select ENSP00000367752.4:p.Ala194=
ENST00000378478.5:c.582A>T ENSP00000367739.2:p.Ala194=
ENST00000378491.8:c.582A>T ENSP00000367752.4:p.Ala194=
ENST00000468195.2:n.257-8831A>T
NM_080723.4:c.582A>T NP_542454.3:p.Ala194=
NM_080723.5:c.582A>T MANE Select NP_542454.3:p.Ala194=