Canonical Allele Identifier: CA347951992
Gene: SLC9A4 HGNC NCBI

Linked Data

dbSNP Id: rs1318418571
gnomAD v4: 2-102532547-T-G
MyVariant Identifiers: chr2:g.103149006T>G (hg19) chr2:g.102532547T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.102532547T>G , CM000664.2:g.102532547T>G GRCh38
NC_000002.11:g.103149006T>G , CM000664.1:g.103149006T>G GRCh37
NC_000002.10:g.102515438T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000295269.5:c.2256T>G MANE Select ENSP00000295269.4:p.His752Gln
ENST00000295269.4:c.2256T>G ENSP00000295269.4:p.His752Gln
NM_001011552.3:c.2256T>G NP_001011552.2:p.His752Gln
XM_011511158.1:c.2169T>G XP_011509460.1:p.His723Gln
NM_001011552.4:c.2256T>G MANE Select NP_001011552.2:p.His752Gln
Search 100 bp 5'
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