Canonical Allele Identifier: CA1811415
Gene: SLC9A4 HGNC NCBI

Linked Data

dbSNP Id: rs774066463
ExAC: 2:103149050 A / C
gnomAD v2: 2-103149050-A-C
gnomAD v3: 2-102532591-A-C
gnomAD v4: 2-102532591-A-C
MyVariant Identifiers: chr2:g.103149050A>C (hg19) chr2:g.102532591A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.102532591A>C , CM000664.2:g.102532591A>C GRCh38
NC_000002.11:g.103149050A>C , CM000664.1:g.103149050A>C GRCh37
NC_000002.10:g.102515482A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000295269.5:c.2300A>C MANE Select ENSP00000295269.4:p.Lys767Thr
ENST00000295269.4:c.2300A>C ENSP00000295269.4:p.Lys767Thr
NM_001011552.3:c.2300A>C NP_001011552.2:p.Lys767Thr
XM_011511158.1:c.2213A>C XP_011509460.1:p.Lys738Thr
NM_001011552.4:c.2300A>C MANE Select NP_001011552.2:p.Lys767Thr
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