Canonical Allele Identifier: CA920222225

Gene: SLC12A5

Linked Data

• dbSNP Id: rs1568869355
• gnomAD v4: 20-46056486-A-ACAAGT

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46056488_46056492dup , CM000682.2:g.46056488_46056492dup	GRCh38
NC_000020.10:g.44685127_44685131dup , CM000682.1:g.44685127_44685131dup	GRCh37
NC_000020.9:g.44118534_44118538dup	NCBI36
NG_046341.1:g.39799_39803dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243964.7:c.3034_3038dup MANE Select	ENSP00000243964.4:p.Val1014SerfsTer24
ENST00000243964.6:c.3034_3038dup	ENSP00000243964.3:p.Val1014SerfsTer24
ENST00000454036.6:c.3103_3107dup	ENSP00000387694.1:p.Val1037SerfsTer24
ENST00000616201.4:c.1298-2168_1298-2164dup	ENSP00000484585.1:n.1298-2168_1298-2164dup
ENST00000616202.4:c.613-1993_613-1989dup	ENSP00000478369.1:n.613-1993_613-1989dup
ENST00000616933.4:c.*2352_*2356dup	ENSP00000477569.1:n.*2352_*2356dup
ENST00000626937.2:c.510-3111_510-3107dup	ENSP00000485953.1:n.510-3111_510-3107dup
ENST00000628413.1:n.550_554dup
NM_001134771.1:c.3103_3107dup	NP_001128243.1:p.Val1037SerfsTer24
NM_020708.4:c.3034_3038dup	NP_065759.1:p.Val1014SerfsTer24
XM_017027981.1:c.3103_3107dup	XP_016883470.1:p.Val1037SerfsTer24
NM_001134771.2:c.3103_3107dup	NP_001128243.1:p.Val1037SerfsTer24
NM_020708.5:c.3034_3038dup MANE Select	NP_065759.1:p.Val1014SerfsTer24