Canonical Allele Identifier: CA391617473

Gene: SLC12A6

Linked Data

• MyVariant Identifiers: chr15:g.34528237T>A (hg19) ; chr15:g.34236036T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34236036T>A , CM000677.2:g.34236036T>A	GRCh38
NC_000015.9:g.34528237T>A , CM000677.1:g.34528237T>A	GRCh37
NC_000015.8:g.32315529T>A	NCBI36
NG_007951.1:g.107029A>T , LRG_270:g.107029A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000354181.8:c.3206A>T MANE Select	ENSP00000346112.3:p.Gln1069Leu
ENST00000676379.1:c.3206A>T	ENSP00000502539.1:p.Gln1069Leu
ENST00000290209.9:c.3053A>T	ENSP00000290209.5:p.Gln1018Leu
ENST00000354181.7:c.3206A>T	ENSP00000346112.3:p.Gln1069Leu
ENST00000397702.6:c.3029A>T	ENSP00000380814.2:p.Gln1010Leu
ENST00000397707.6:c.3161A>T	ENSP00000380819.2:p.Gln1054Leu
ENST00000458406.6:c.3029A>T	ENSP00000387725.2:p.Gln1010Leu
ENST00000558589.5:c.3179A>T	ENSP00000452776.1:p.Gln1060Leu
ENST00000558667.5:c.3206A>T	ENSP00000453473.1:p.Gln1069Leu
ENST00000559523.5:c.*229A>T	ENSP00000452904.1:n.*229A>T
ENST00000559664.5:c.*415A>T	ENSP00000453702.1:n.*415A>T
ENST00000560164.5:c.2642A>T	ENSP00000452705.1:p.Gln881Leu
ENST00000560611.5:c.3206A>T	ENSP00000454168.1:p.Gln1069Leu
ENST00000561080.5:c.*444A>T	ENSP00000454069.1:n.*444A>T
NM_001042494.1:c.3029A>T	NP_001035959.1:p.Gln1010Leu
NM_001042495.1:c.3029A>T	NP_001035960.1:p.Gln1010Leu
NM_001042496.1:c.3179A>T	NP_001035961.1:p.Gln1060Leu
NM_001042497.1:c.3161A>T	NP_001035962.1:p.Gln1054Leu
NM_005135.2:c.3053A>T , LRG_270t1:c.3053A>T	NP_005126.1:p.Gln1018Leu
NM_133647.1:c.3206A>T , LRG_270t2:c.3206A>T	NP_598408.1:p.Gln1069Leu
XM_006720793.2:c.3059A>T	XP_006720856.1:p.Gln1020Leu
XM_011522267.1:c.3206A>T	XP_011520569.1:p.Gln1069Leu
XM_011522268.1:c.3206A>T	XP_011520570.1:p.Gln1069Leu
XR_429476.2:n.3212A>T
NM_001365088.1:c.3206A>T MANE Select	NP_001352017.1:p.Gln1069Leu
XM_006720793.4:c.3059A>T	XP_006720856.1:p.Gln1020Leu
XR_931960.3:n.4485A>T
NM_001042494.2:c.3029A>T	NP_001035959.1:p.Gln1010Leu
NM_001042495.2:c.3029A>T	NP_001035960.1:p.Gln1010Leu
NM_001042496.2:c.3179A>T	NP_001035961.1:p.Gln1060Leu
NM_001042497.2:c.3161A>T	NP_001035962.1:p.Gln1054Leu
NM_133647.2:c.3206A>T	NP_598408.1:p.Gln1069Leu