Canonical Allele Identifier: CA347951995
Gene: SLC9A4 HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000295269.5:c.2257G>A MANE Select ENSP00000295269.4:p.Ala753Thr
ENST00000295269.4:c.2257G>A ENSP00000295269.4:p.Ala753Thr
NM_001011552.3:c.2257G>A NP_001011552.2:p.Ala753Thr
XM_011511158.1:c.2170G>A XP_011509460.1:p.Ala724Thr
NM_001011552.4:c.2257G>A MANE Select NP_001011552.2:p.Ala753Thr