Canonical Allele Identifier: CA347952002
Gene: SLC9A4 HGNC NCBI

Linked Data

gnomAD v4: 2-102532552-T-C
MyVariant Identifiers: chr2:g.103149011T>C (hg19) chr2:g.102532552T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.102532552T>C , CM000664.2:g.102532552T>C GRCh38
NC_000002.11:g.103149011T>C , CM000664.1:g.103149011T>C GRCh37
NC_000002.10:g.102515443T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000295269.5:c.2261T>C MANE Select ENSP00000295269.4:p.Val754Ala
ENST00000295269.4:c.2261T>C ENSP00000295269.4:p.Val754Ala
NM_001011552.3:c.2261T>C NP_001011552.2:p.Val754Ala
XM_011511158.1:c.2174T>C XP_011509460.1:p.Val725Ala
NM_001011552.4:c.2261T>C MANE Select NP_001011552.2:p.Val754Ala
Search 100 bp 5'
Search 100 bp 3'