Canonical Allele Identifier: CA2584419

Gene: SLC12A8

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.125088343C>T , CM000665.2:g.125088343C>T	GRCh38
NC_000003.11:g.124807187C>T , CM000665.1:g.124807187C>T	GRCh37
NC_000003.10:g.126289877C>T	NCBI36
NG_027706.1:g.129423G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_024628.6:c.1949G>A MANE Select	NP_078904.4:p.Arg650Gln
ENST00000469902.6:c.1949G>A MANE Select	ENSP00000418783.1:p.Arg650Gln
NM_001195483.1:c.1949G>A	NP_001182412.1:p.Arg650Gln
NM_001195483.2:c.1949G>A	NP_001182412.2:p.Arg650Gln
NM_024628.5:c.1949G>A	NP_078904.3:p.Arg650Gln
ENST00000393469.8:c.1949G>A	ENSP00000377112.4:p.Arg650Gln
ENST00000430155.6:c.1352G>A	ENSP00000415713.2:p.Arg451Gln
ENST00000461616.1:n.314-34G>A
ENST00000465475.5:n.1040-4291G>A
ENST00000469902.5:c.1949G>A	ENSP00000418783.1:p.Arg650Gln
ENST00000473262.5:c.1918G>A
ENST00000479352.5:n.1317G>A
ENST00000483944.5:n.795G>A