Canonical Allele Identifier: CA2589500113
Gene: GNB1L HGNC NCBI

Linked Data

dbSNP Id: rs2145864165
gnomAD v3: 22-19797565-C-A
gnomAD v4: 22-19797565-C-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19797565C>A , CM000684.2:g.19797565C>A GRCh38
NC_000022.10:g.19785088C>A , CM000684.1:g.19785088C>A GRCh37
NC_000022.9:g.18165088C>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000329517.11:c.732+4436G>T MANE Select ENSP00000331313.6:n.732+4436G>T
ENST00000329517.10:c.732+4436G>T ENSP00000331313.6:n.732+4436G>T
ENST00000403325.5:c.732+4436G>T ENSP00000385154.1:n.732+4436G>T
ENST00000405009.5:c.630+4538G>T ENSP00000384626.1:n.630+4538G>T
ENST00000460402.5:n.700+4436G>T
NM_053004.2:c.732+4436G>T NP_443730.1:n.732+4436G>T
NM_053004.3:c.732+4436G>T MANE Select NP_443730.1:n.732+4436G>T
Search 100 bp 5'
Search 100 bp 3'