Canonical Allele Identifier: CA363277243
Gene: NRSN1 HGNC NCBI

Linked Data

dbSNP Id: rs748083504
gnomAD v3: 6-24145882-G-T
gnomAD v4: 6-24145882-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24145882G>T , CM000668.2:g.24145882G>T GRCh38
NC_000006.11:g.24146110G>T , CM000668.1:g.24146110G>T GRCh37
NC_000006.10:g.24254089G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000378491.9:c.524G>T MANE Select ENSP00000367752.4:p.Gly175Val
ENST00000378478.5:c.524G>T ENSP00000367739.2:p.Gly175Val
ENST00000378491.8:c.524G>T ENSP00000367752.4:p.Gly175Val
ENST00000468195.2:n.257-8889G>T
NM_080723.4:c.524G>T NP_542454.3:p.Gly175Val
NM_080723.5:c.524G>T MANE Select NP_542454.3:p.Gly175Val