Canonical Allele Identifier: CA287398184
Gene: SLC16A13 HGNC NCBI

Linked Data

dbSNP Id: rs312457
gnomAD v2: 17-6940393-G-A
gnomAD v3: 17-7037074-G-A
gnomAD v4: 17-7037074-G-A
MyVariant Identifiers: chr17:g.6940393G>A (hg19) chr17:g.7037074G>A (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000308027.7:c.343+204G>A MANE Select ENSP00000309751.6:n.343+204G>A
ENST00000308027.6:c.343+204G>A ENSP00000309751.6:n.343+204G>A
NM_201566.2:c.343+204G>A NP_963860.1:n.343+204G>A
NM_201566.3:c.343+204G>A MANE Select NP_963860.1:n.343+204G>A
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