Canonical Allele Identifier: CA413656339
Gene: SLC16A2 HGNC NCBI

Linked Data

dbSNP Id: rs1356620718
MyVariant Identifiers: chrX:g.73641839A>T (hg19) chrX:g.74422004A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.74422004A>T , CM000685.2:g.74422004A>T GRCh38
NC_000023.10:g.73641839A>T , CM000685.1:g.73641839A>T GRCh37
NC_000023.9:g.73558564A>T NCBI36
NG_011641.1:g.5755A>T
NG_011641.2:g.5755A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000587091.6:c.367A>T MANE Select ENSP00000465734.1:p.Ile123Phe
ENST00000636771.1:c.113A>T
ENST00000587091.5:c.367A>T ENSP00000465734.1:p.Ile123Phe
NM_006517.4:c.367A>T NP_006508.2:p.Ile123Phe
XM_005262294.1:c.367A>T XP_005262351.1:p.Ile123Phe
XM_011531015.1:c.367A>T XP_011529317.1:p.Ile123Phe
NM_006517.5:c.367A>T MANE Select NP_006508.2:p.Ile123Phe
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