Canonical Allele Identifier: CA391618478

Gene: SLC12A6

Linked Data

• MyVariant Identifiers: chr15:g.34529661A>T (hg19) ; chr15:g.34237460A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34237460A>T , CM000677.2:g.34237460A>T	GRCh38
NC_000015.9:g.34529661A>T , CM000677.1:g.34529661A>T	GRCh37
NC_000015.8:g.32316953A>T	NCBI36
NG_007951.1:g.105605T>A , LRG_270:g.105605T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354181.8:c.2893T>A MANE Select	ENSP00000346112.3:p.Tyr965Asn
ENST00000676379.1:c.2893T>A	ENSP00000502539.1:p.Tyr965Asn
ENST00000290209.9:c.2740T>A	ENSP00000290209.5:p.Tyr914Asn
ENST00000354181.7:c.2893T>A	ENSP00000346112.3:p.Tyr965Asn
ENST00000397702.6:c.2716T>A	ENSP00000380814.2:p.Tyr906Asn
ENST00000397707.6:c.2848T>A	ENSP00000380819.2:p.Tyr950Asn
ENST00000458406.6:c.2716T>A	ENSP00000387725.2:p.Tyr906Asn
ENST00000558589.5:c.2866T>A	ENSP00000452776.1:p.Tyr956Asn
ENST00000558667.5:c.2893T>A	ENSP00000453473.1:p.Tyr965Asn
ENST00000559076.1:n.256T>A
ENST00000559523.5:c.2716T>A	ENSP00000452904.1:p.Tyr906Asn
ENST00000559664.5:c.*102T>A	ENSP00000453702.1:n.*102T>A
ENST00000560164.5:c.2329T>A	ENSP00000452705.1:p.Tyr777Asn
ENST00000560611.5:c.2893T>A	ENSP00000454168.1:p.Tyr965Asn
ENST00000561080.5:c.*102T>A	ENSP00000454069.1:n.*102T>A
NM_001042494.1:c.2716T>A	NP_001035959.1:p.Tyr906Asn
NM_001042495.1:c.2716T>A	NP_001035960.1:p.Tyr906Asn
NM_001042496.1:c.2866T>A	NP_001035961.1:p.Tyr956Asn
NM_001042497.1:c.2848T>A	NP_001035962.1:p.Tyr950Asn
NM_005135.2:c.2740T>A , LRG_270t1:c.2740T>A	NP_005126.1:p.Tyr914Asn
NM_133647.1:c.2893T>A , LRG_270t2:c.2893T>A	NP_598408.1:p.Tyr965Asn
XM_006720793.2:c.2746T>A	XP_006720856.1:p.Tyr916Asn
XM_011522267.1:c.2893T>A	XP_011520569.1:p.Tyr965Asn
XM_011522268.1:c.2893T>A	XP_011520570.1:p.Tyr965Asn
XR_429476.2:n.2899T>A
XR_931960.1:n.2899T>A
NM_001365088.1:c.2893T>A MANE Select	NP_001352017.1:p.Tyr965Asn
XM_006720793.4:c.2746T>A	XP_006720856.1:p.Tyr916Asn
XR_931960.3:n.4143T>A
NM_001042494.2:c.2716T>A	NP_001035959.1:p.Tyr906Asn
NM_001042495.2:c.2716T>A	NP_001035960.1:p.Tyr906Asn
NM_001042496.2:c.2866T>A	NP_001035961.1:p.Tyr956Asn
NM_001042497.2:c.2848T>A	NP_001035962.1:p.Tyr950Asn
NM_133647.2:c.2893T>A	NP_598408.1:p.Tyr965Asn