Canonical Allele Identifier: CA287398186
Gene: SLC16A13 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.7037074G>T
GRCh37 chr17:g.6940393G>T
gnomAD v2:
17:6940393 G / T
gnomAD v3:
17:7037074 G / T
gnomAD v4:
chr17-7037074-G-T
Joint Max Group AF 0.00018703 (AFR)
Genomes Max Group AF 0.00022226 (AFR)
Exomes Max Group AF 0.00002456 (AMR)
dbSNP:
312457
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7037074G>T , CM000679.2:g.7037074G>T GRCh38
NC_000017.10:g.6940393G>T , CM000679.1:g.6940393G>T GRCh37
NC_000017.9:g.6881117G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000308027.7:c.343+204G>T MANE Select ENSP00000309751.6:n.343+204G>T
ENST00000308027.6:c.343+204G>T ENSP00000309751.6:n.343+204G>T
NM_201566.2:c.343+204G>T NP_963860.1:n.343+204G>T
NM_201566.3:c.343+204G>T MANE Select NP_963860.1:n.343+204G>T
Search 100 bp 5'
Search 100 bp 3'