Canonical Allele Identifier: CA409207373

Gene: SLC12A5

Linked Data

• MyVariant Identifiers: chr20:g.44684831A>C (hg19) ; chr20:g.46056192A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46056192A>C , CM000682.2:g.46056192A>C	GRCh38
NC_000020.10:g.44684831A>C , CM000682.1:g.44684831A>C	GRCh37
NC_000020.9:g.44118238A>C	NCBI36
NG_046341.1:g.39503A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243964.7:c.2830A>C MANE Select	ENSP00000243964.4:p.Lys944Gln
ENST00000243964.6:c.2830A>C	ENSP00000243964.3:p.Lys944Gln
ENST00000454036.6:c.2899A>C	ENSP00000387694.1:p.Lys967Gln
ENST00000616201.4:c.1298-2464A>C	ENSP00000484585.1:n.1298-2464A>C
ENST00000616202.4:c.613-2289A>C	ENSP00000478369.1:n.613-2289A>C
ENST00000616933.4:c.*2148A>C	ENSP00000477569.1:n.*2148A>C
ENST00000626937.2:c.510-3407A>C	ENSP00000485953.1:n.510-3407A>C
ENST00000628413.1:n.346A>C
NM_001134771.1:c.2899A>C	NP_001128243.1:p.Lys967Gln
NM_020708.4:c.2830A>C	NP_065759.1:p.Lys944Gln
XM_017027981.1:c.2899A>C	XP_016883470.1:p.Lys967Gln
NM_001134771.2:c.2899A>C	NP_001128243.1:p.Lys967Gln
NM_020708.5:c.2830A>C MANE Select	NP_065759.1:p.Lys944Gln