Canonical Allele Identifier: CA52947252
Gene: SLC9A4 HGNC NCBI

Linked Data

dbSNP Id: rs373931000
gnomAD v2: 2-103149008-C-A
gnomAD v4: 2-102532549-C-A
MyVariant Identifiers: chr2:g.103149008C>A (hg19) chr2:g.102532549C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.102532549C>A , CM000664.2:g.102532549C>A GRCh38
NC_000002.11:g.103149008C>A , CM000664.1:g.103149008C>A GRCh37
NC_000002.10:g.102515440C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000295269.5:c.2258C>A MANE Select ENSP00000295269.4:p.Ala753Glu
ENST00000295269.4:c.2258C>A ENSP00000295269.4:p.Ala753Glu
NM_001011552.3:c.2258C>A NP_001011552.2:p.Ala753Glu
XM_011511158.1:c.2171C>A XP_011509460.1:p.Ala724Glu
NM_001011552.4:c.2258C>A MANE Select NP_001011552.2:p.Ala753Glu
Search 100 bp 5'
Search 100 bp 3'