Canonical Allele Identifier: CA248445
Gene: SLC16A8 HGNC NCBI
MyVariant.info:
GRCh38 chr22:g.38080269C>T
GRCh37 chr22:g.38476276C>T
gnomAD v2:
22:38476276 C / T
gnomAD v3:
22:38080269 C / T
gnomAD v4:
chr22-38080269-C-T
Joint Max Group AF 0.3251426 (AFR)
Genomes Max Group AF 0.3251426 (AFR)
ClinVar RCV:
RCV000190316
ClinVar Variation:
162179
dbSNP:
8135665
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.38080269C>T , CM000684.2:g.38080269C>T GRCh38
NC_000022.10:g.38476276C>T , CM000684.1:g.38476276C>T GRCh37
NC_000022.9:g.36806222C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000681075.2:c.1198+571G>A MANE Select ENSP00000506669.1:n.1198+571G>A
ENST00000320521.10:c.1198+571G>A ENSP00000321735.5:n.1198+571G>A
ENST00000681075.1:c.1198+571G>A ENSP00000506669.1:n.1198+571G>A
ENST00000320521.9:c.1198+571G>A ENSP00000321735.5:n.1198+571G>A
ENST00000469516.5:n.107-1565G>A
NM_013356.2:c.1198+571G>A NP_037488.2:n.1198+571G>A
XR_938249.1:n.844C>T
XM_017028685.1:c.1198+571G>A XP_016884174.1:n.1198+571G>A
XR_001755537.1:n.676C>T
XR_938249.2:n.844C>T
NM_013356.3:c.1198+571G>A MANE Select NP_037488.2:n.1198+571G>A
NM_001394131.1:c.-80-1565G>A NP_001381060.1:n.-80-1565G>A
Search 100 bp 5'
Search 100 bp 3'