Canonical Allele Identifier: CA347952341
Gene: SLC9A4 HGNC NCBI

Linked Data

gnomAD v4: 2-102532662-C-T
COSMIC: COSM4479922
MyVariant Identifiers: chr2:g.103149121C>T (hg19) chr2:g.102532662C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.102532662C>T , CM000664.2:g.102532662C>T GRCh38
NC_000002.11:g.103149121C>T , CM000664.1:g.103149121C>T GRCh37
NC_000002.10:g.102515553C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000295269.5:c.2371C>T MANE Select ENSP00000295269.4:p.His791Tyr
ENST00000295269.4:c.2371C>T ENSP00000295269.4:p.His791Tyr
NM_001011552.3:c.2371C>T NP_001011552.2:p.His791Tyr
XM_011511158.1:c.2284C>T XP_011509460.1:p.His762Tyr
NM_001011552.4:c.2371C>T MANE Select NP_001011552.2:p.His791Tyr
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