Canonical Allele Identifier: CA2499225771

Gene: SLC12A5

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46045063dup , CM000682.2:g.46045063dup	GRCh38
NC_000020.10:g.44673702dup , CM000682.1:g.44673702dup	GRCh37
NC_000020.9:g.44107109dup	NCBI36
NG_046341.1:g.28374dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243964.7:c.1492dup MANE Select	ENSP00000243964.4:p.Ala498GlyfsTer?
ENST00000243964.6:c.1492dup	ENSP00000243964.3:p.Ala498GlyfsTer?
ENST00000454036.6:c.1561dup	ENSP00000387694.1:p.Ala521GlyfsTer?
ENST00000539566.3:c.510-815dup	ENSP00000446091.1:n.510-815dup
ENST00000616201.4:c.1297+1371dup	ENSP00000484585.1:n.1297+1371dup
ENST00000616202.4:c.612+7678dup	ENSP00000478369.1:n.612+7678dup
ENST00000616933.4:c.*810dup	ENSP00000477569.1:n.*810dup
ENST00000626144.1:n.303dup
ENST00000626937.2:c.509+7781dup	ENSP00000485953.1:n.509+7781dup
NM_001134771.1:c.1561dup	NP_001128243.1:p.Ala521GlyfsTer?
NM_020708.4:c.1492dup	NP_065759.1:p.Ala498GlyfsTer?
XM_017027981.1:c.1561dup	XP_016883470.1:p.Ala521GlyfsTer?
NM_001134771.2:c.1561dup	NP_001128243.1:p.Ala521GlyfsTer?
NM_020708.5:c.1492dup MANE Select	NP_065759.1:p.Ala498GlyfsTer?