Canonical Allele Identifier: CA14971093

Gene: GNB1L

Linked Data

• dbSNP Id: rs2269726
• gnomAD v2: 22-19785006-T-C
• gnomAD v3: 22-19797483-T-C
• gnomAD v4: 22-19797483-T-C
• MyVariant Identifiers: chr22:g.19785006T>C (hg19) ; chr22:g.19797483T>C (hg38)

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
ENST00000329517.11:c.732+4518A>G MANE Select	ENSP00000331313.6:n.732+4518A>G
ENST00000329517.10:c.732+4518A>G	ENSP00000331313.6:n.732+4518A>G
ENST00000403325.5:c.732+4518A>G	ENSP00000385154.1:n.732+4518A>G
ENST00000405009.5:c.630+4620A>G	ENSP00000384626.1:n.630+4620A>G
ENST00000460402.5:n.700+4518A>G
NM_053004.2:c.732+4518A>G	NP_443730.1:n.732+4518A>G
NM_053004.3:c.732+4518A>G MANE Select	NP_443730.1:n.732+4518A>G