Canonical Allele Identifier: CA347952311
Gene: SLC9A4 HGNC NCBI

Linked Data

dbSNP Id: rs1348303275
gnomAD v2: 2-103149113-A-T
gnomAD v4: 2-102532654-A-T
MyVariant Identifiers: chr2:g.103149113A>T (hg19) chr2:g.102532654A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.102532654A>T , CM000664.2:g.102532654A>T GRCh38
NC_000002.11:g.103149113A>T , CM000664.1:g.103149113A>T GRCh37
NC_000002.10:g.102515545A>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000295269.5:c.2363A>T MANE Select ENSP00000295269.4:p.His788Leu
ENST00000295269.4:c.2363A>T ENSP00000295269.4:p.His788Leu
NM_001011552.3:c.2363A>T NP_001011552.2:p.His788Leu
XM_011511158.1:c.2276A>T XP_011509460.1:p.His759Leu
NM_001011552.4:c.2363A>T MANE Select NP_001011552.2:p.His788Leu
Search 100 bp 5'
Search 100 bp 3'