Canonical Allele Identifier: CA409207392

Gene: SLC12A5

Linked Data

• MyVariant Identifiers: chr20:g.44684840G>A (hg19) ; chr20:g.46056201G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46056201G>A , CM000682.2:g.46056201G>A	GRCh38
NC_000020.10:g.44684840G>A , CM000682.1:g.44684840G>A	GRCh37
NC_000020.9:g.44118247G>A	NCBI36
NG_046341.1:g.39512G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243964.7:c.2839G>A MANE Select	ENSP00000243964.4:p.Ala947Thr
ENST00000243964.6:c.2839G>A	ENSP00000243964.3:p.Ala947Thr
ENST00000454036.6:c.2908G>A	ENSP00000387694.1:p.Ala970Thr
ENST00000616201.4:c.1298-2455G>A	ENSP00000484585.1:n.1298-2455G>A
ENST00000616202.4:c.613-2280G>A	ENSP00000478369.1:n.613-2280G>A
ENST00000616933.4:c.*2157G>A	ENSP00000477569.1:n.*2157G>A
ENST00000626937.2:c.510-3398G>A	ENSP00000485953.1:n.510-3398G>A
ENST00000628413.1:n.355G>A
NM_001134771.1:c.2908G>A	NP_001128243.1:p.Ala970Thr
NM_020708.4:c.2839G>A	NP_065759.1:p.Ala947Thr
XM_017027981.1:c.2908G>A	XP_016883470.1:p.Ala970Thr
NM_001134771.2:c.2908G>A	NP_001128243.1:p.Ala970Thr
NM_020708.5:c.2839G>A MANE Select	NP_065759.1:p.Ala947Thr