Canonical Allele Identifier: CA2245609821
Gene: SLC16A13 HGNC NCBI

Linked Data

dbSNP Id: rs312457
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Genomic Alleles

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

Transcript Alleles

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