Canonical Allele Identifier: CA14971093
Gene: GNB1L HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs2269726

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19797483T>C , CM000684.2:g.19797483T>C GRCh38
NC_000022.10:g.19785006T>C , CM000684.1:g.19785006T>C GRCh37
NC_000022.9:g.18165006T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
NM_053004.2:c.732+4518A>G VV NP_443730.1:p.=
NM_053004.3:c.732+4518A>G VV MANE Preferred NP_443730.1:p.=
ENST00000329517.10:c.732+4518A>G ENSP00000331313.6:p.=
ENST00000403325.5:c.732+4518A>G ENSP00000385154.1:p.=
ENST00000405009.5:c.630+4620A>G ENSP00000384626.1:p.=
ENST00000460402.5:n.700+4518A>G