Canonical Allele Identifier: CA510754979

Gene: SLC12A5

Linked Data

• gnomAD v4: 20-46056257-G-A
• MyVariant Identifiers: chr20:g.44684896G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46056257G>A , CM000682.2:g.46056257G>A	GRCh38
NC_000020.10:g.44684896G>A , CM000682.1:g.44684896G>A	GRCh37
NC_000020.9:g.44118303G>A	NCBI36
NG_046341.1:g.39568G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243964.7:c.2895G>A MANE Select	ENSP00000243964.4:p.Glu965=
ENST00000243964.6:c.2895G>A	ENSP00000243964.3:p.Glu965=
ENST00000454036.6:c.2964G>A	ENSP00000387694.1:p.Glu988=
ENST00000616201.4:c.1298-2399G>A	ENSP00000484585.1:n.1298-2399G>A
ENST00000616202.4:c.613-2224G>A	ENSP00000478369.1:n.613-2224G>A
ENST00000616933.4:c.*2213G>A	ENSP00000477569.1:n.*2213G>A
ENST00000626937.2:c.510-3342G>A	ENSP00000485953.1:n.510-3342G>A
ENST00000628413.1:n.411G>A
NM_001134771.1:c.2964G>A	NP_001128243.1:p.Glu988=
NM_020708.4:c.2895G>A	NP_065759.1:p.Glu965=
XM_017027981.1:c.2964G>A	XP_016883470.1:p.Glu988=
NM_001134771.2:c.2964G>A	NP_001128243.1:p.Glu988=
NM_020708.5:c.2895G>A MANE Select	NP_065759.1:p.Glu965=