Canonical Allele Identifier: CA409207833

Gene: SLC12A5

Linked Data

• ClinVar Variation Id: 1394741
• ClinVar RCV Id: RCV001898612
• dbSNP Id: rs2145508098
• MyVariant Identifiers: chr20:g.44685103G>A (hg19) ; chr20:g.46056464G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46056464G>A , CM000682.2:g.46056464G>A	GRCh38
NC_000020.10:g.44685103G>A , CM000682.1:g.44685103G>A	GRCh37
NC_000020.9:g.44118510G>A	NCBI36
NG_046341.1:g.39775G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243964.7:c.3010G>A MANE Select	ENSP00000243964.4:p.Val1004Met
ENST00000243964.6:c.3010G>A	ENSP00000243964.3:p.Val1004Met
ENST00000454036.6:c.3079G>A	ENSP00000387694.1:p.Val1027Met
ENST00000616201.4:c.1298-2192G>A	ENSP00000484585.1:n.1298-2192G>A
ENST00000616202.4:c.613-2017G>A	ENSP00000478369.1:n.613-2017G>A
ENST00000616933.4:c.*2328G>A	ENSP00000477569.1:n.*2328G>A
ENST00000626937.2:c.510-3135G>A	ENSP00000485953.1:n.510-3135G>A
ENST00000628413.1:n.526G>A
NM_001134771.1:c.3079G>A	NP_001128243.1:p.Val1027Met
NM_020708.4:c.3010G>A	NP_065759.1:p.Val1004Met
XM_017027981.1:c.3079G>A	XP_016883470.1:p.Val1027Met
NM_001134771.2:c.3079G>A	NP_001128243.1:p.Val1027Met
NM_020708.5:c.3010G>A MANE Select	NP_065759.1:p.Val1004Met