Canonical Allele Identifier: CA347952000

Gene: SLC9A4

Linked Data

• MyVariant Identifiers: chr2:g.103149010G>T (hg19) ; chr2:g.102532551G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.102532551G>T , CM000664.2:g.102532551G>T	GRCh38
NC_000002.11:g.103149010G>T , CM000664.1:g.103149010G>T	GRCh37
NC_000002.10:g.102515442G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000295269.5:c.2260G>T MANE Select	ENSP00000295269.4:p.Val754Leu
ENST00000295269.4:c.2260G>T	ENSP00000295269.4:p.Val754Leu
NM_001011552.3:c.2260G>T	NP_001011552.2:p.Val754Leu
XM_011511158.1:c.2173G>T	XP_011509460.1:p.Val725Leu
NM_001011552.4:c.2260G>T MANE Select	NP_001011552.2:p.Val754Leu