Canonical Allele Identifier: CA347951993
Gene: SLC9A4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.102532548G>C , CM000664.2:g.102532548G>C GRCh38
NC_000002.11:g.103149007G>C , CM000664.1:g.103149007G>C GRCh37
NC_000002.10:g.102515439G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000295269.5:c.2257G>C MANE Select ENSP00000295269.4:p.Ala753Pro
ENST00000295269.4:c.2257G>C ENSP00000295269.4:p.Ala753Pro
NM_001011552.3:c.2257G>C NP_001011552.2:p.Ala753Pro
XM_011511158.1:c.2170G>C XP_011509460.1:p.Ala724Pro
NM_001011552.4:c.2257G>C MANE Select NP_001011552.2:p.Ala753Pro