Canonical Allele Identifier: CA409207666

Gene: SLC12A5

Linked Data

• ClinVar Variation Id: 2278202
• ClinVar RCV Id: RCV004124993
• gnomAD v4: 20-46056406-C-A
• MyVariant Identifiers: chr20:g.44685045C>A (hg19) ; chr20:g.46056406C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46056406C>A , CM000682.2:g.46056406C>A	GRCh38
NC_000020.10:g.44685045C>A , CM000682.1:g.44685045C>A	GRCh37
NC_000020.9:g.44118452C>A	NCBI36
NG_046341.1:g.39717C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243964.7:c.2952C>A MANE Select	ENSP00000243964.4:p.Ser984Arg
ENST00000243964.6:c.2952C>A	ENSP00000243964.3:p.Ser984Arg
ENST00000454036.6:c.3021C>A	ENSP00000387694.1:p.Ser1007Arg
ENST00000616201.4:c.1298-2250C>A	ENSP00000484585.1:n.1298-2250C>A
ENST00000616202.4:c.613-2075C>A	ENSP00000478369.1:n.613-2075C>A
ENST00000616933.4:c.*2270C>A	ENSP00000477569.1:n.*2270C>A
ENST00000626937.2:c.510-3193C>A	ENSP00000485953.1:n.510-3193C>A
ENST00000628413.1:n.468C>A
NM_001134771.1:c.3021C>A	NP_001128243.1:p.Ser1007Arg
NM_020708.4:c.2952C>A	NP_065759.1:p.Ser984Arg
XM_017027981.1:c.3021C>A	XP_016883470.1:p.Ser1007Arg
NM_001134771.2:c.3021C>A	NP_001128243.1:p.Ser1007Arg
NM_020708.5:c.2952C>A MANE Select	NP_065759.1:p.Ser984Arg