Canonical Allele Identifier: CA409208116

Gene: SLC12A5

Linked Data

• ClinVar Variation Id: 1998790
• ClinVar RCV Id: RCV002814912
• MyVariant Identifiers: chr20:g.44685167C>T (hg19) ; chr20:g.46056528C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46056528C>T , CM000682.2:g.46056528C>T	GRCh38
NC_000020.10:g.44685167C>T , CM000682.1:g.44685167C>T	GRCh37
NC_000020.9:g.44118574C>T	NCBI36
NG_046341.1:g.39839C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243964.7:c.3074C>T MANE Select	ENSP00000243964.4:p.Ser1025Phe
ENST00000243964.6:c.3074C>T	ENSP00000243964.3:p.Ser1025Phe
ENST00000454036.6:c.3143C>T	ENSP00000387694.1:p.Ser1048Phe
ENST00000616201.4:c.1298-2128C>T	ENSP00000484585.1:n.1298-2128C>T
ENST00000616202.4:c.613-1953C>T	ENSP00000478369.1:n.613-1953C>T
ENST00000616933.4:c.*2392C>T	ENSP00000477569.1:n.*2392C>T
ENST00000626937.2:c.510-3071C>T	ENSP00000485953.1:n.510-3071C>T
NM_001134771.1:c.3143C>T	NP_001128243.1:p.Ser1048Phe
NM_020708.4:c.3074C>T	NP_065759.1:p.Ser1025Phe
XM_017027981.1:c.3143C>T	XP_016883470.1:p.Ser1048Phe
NM_001134771.2:c.3143C>T	NP_001128243.1:p.Ser1048Phe
NM_020708.5:c.3074C>T MANE Select	NP_065759.1:p.Ser1025Phe