Canonical Allele Identifier: CA347951990
Gene: SLC9A4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.102532546A>T , CM000664.2:g.102532546A>T GRCh38
NC_000002.11:g.103149005A>T , CM000664.1:g.103149005A>T GRCh37
NC_000002.10:g.102515437A>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000295269.5:c.2255A>T MANE Select ENSP00000295269.4:p.His752Leu
ENST00000295269.4:c.2255A>T ENSP00000295269.4:p.His752Leu
NM_001011552.3:c.2255A>T NP_001011552.2:p.His752Leu
XM_011511158.1:c.2168A>T XP_011509460.1:p.His723Leu
NM_001011552.4:c.2255A>T MANE Select NP_001011552.2:p.His752Leu