Canonical Allele Identifier: CA315644594

Gene: SLC12A5

Linked Data

• dbSNP Id: rs375422107

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46056440dup , CM000682.2:g.46056440dup	GRCh38
NC_000020.10:g.44685079dup , CM000682.1:g.44685079dup	GRCh37
NC_000020.9:g.44118486dup	NCBI36
NG_046341.1:g.39751dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243964.7:c.2986dup MANE Select	ENSP00000243964.4:p.Glu996GlyfsTer24
ENST00000243964.6:c.2986dup	ENSP00000243964.3:p.Glu996GlyfsTer24
ENST00000454036.6:c.3055dup	ENSP00000387694.1:p.Glu1019GlyfsTer24
ENST00000616201.4:c.1298-2216dup	ENSP00000484585.1:n.1298-2216dup
ENST00000616202.4:c.613-2041dup	ENSP00000478369.1:n.613-2041dup
ENST00000616933.4:c.*2304dup	ENSP00000477569.1:n.*2304dup
ENST00000626937.2:c.510-3159dup	ENSP00000485953.1:n.510-3159dup
ENST00000628413.1:n.502dup
NM_001134771.1:c.3055dup	NP_001128243.1:p.Glu1019GlyfsTer24
NM_020708.4:c.2986dup	NP_065759.1:p.Glu996GlyfsTer24
XM_017027981.1:c.3055dup	XP_016883470.1:p.Glu1019GlyfsTer24
NM_001134771.2:c.3055dup	NP_001128243.1:p.Glu1019GlyfsTer24
NM_020708.5:c.2986dup MANE Select	NP_065759.1:p.Glu996GlyfsTer24