Canonical Allele Identifier: CA391614556

Gene: SLC12A6

Linked Data

• gnomAD v4: 15-34260958-C-T
• COSMIC: COSM459053 ; COSM459054 ; COSM3672028
• MyVariant Identifiers: chr15:g.34553159C>T (hg19) ; chr15:g.34260958C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34260958C>T , CM000677.2:g.34260958C>T	GRCh38
NC_000015.9:g.34553159C>T , CM000677.1:g.34553159C>T	GRCh37
NC_000015.8:g.32340451C>T	NCBI36
NG_007951.1:g.82107G>A , LRG_270:g.82107G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354181.8:c.379G>A MANE Select	ENSP00000346112.3:p.Glu127Lys
ENST00000675289.1:n.1161G>A
ENST00000676379.1:c.379G>A	ENSP00000502539.1:p.Glu127Lys
ENST00000290209.9:c.226G>A	ENSP00000290209.5:p.Glu76Lys
ENST00000354181.7:c.379G>A	ENSP00000346112.3:p.Glu127Lys
ENST00000397702.6:c.202G>A	ENSP00000380814.2:p.Glu68Lys
ENST00000397707.6:c.334G>A	ENSP00000380819.2:p.Glu112Lys
ENST00000458406.6:c.202G>A	ENSP00000387725.2:p.Glu68Lys
ENST00000558589.5:c.352G>A	ENSP00000452776.1:p.Glu118Lys
ENST00000558667.5:c.379G>A	ENSP00000453473.1:p.Glu127Lys
ENST00000559236.5:c.379G>A	ENSP00000452828.1:p.Glu127Lys
ENST00000559523.5:c.202G>A	ENSP00000452904.1:p.Glu68Lys
ENST00000559664.5:c.379G>A	ENSP00000453702.1:p.Glu127Lys
ENST00000560164.5:c.-39G>A	ENSP00000452705.1:n.-39G>A
ENST00000560332.1:c.-39G>A	ENSP00000454037.1:n.-39G>A
ENST00000560611.5:c.379G>A	ENSP00000454168.1:p.Glu127Lys
ENST00000561080.5:c.379G>A	ENSP00000454069.1:p.Glu127Lys
ENST00000561120.5:c.352G>A	ENSP00000452771.1:p.Glu118Lys
NM_001042494.1:c.202G>A	NP_001035959.1:p.Glu68Lys
NM_001042495.1:c.202G>A	NP_001035960.1:p.Glu68Lys
NM_001042496.1:c.352G>A	NP_001035961.1:p.Glu118Lys
NM_001042497.1:c.334G>A	NP_001035962.1:p.Glu112Lys
NM_005135.2:c.226G>A , LRG_270t1:c.226G>A	NP_005126.1:p.Glu76Lys
NM_133647.1:c.379G>A , LRG_270t2:c.379G>A	NP_598408.1:p.Glu127Lys
XM_006720793.2:c.379G>A	XP_006720856.1:p.Glu127Lys
XM_011522267.1:c.379G>A	XP_011520569.1:p.Glu127Lys
XM_011522268.1:c.379G>A	XP_011520570.1:p.Glu127Lys
XM_011522269.1:c.379G>A	XP_011520571.1:p.Glu127Lys
XR_429476.2:n.385G>A
XR_931960.1:n.385G>A
XR_931961.1:n.385G>A
NM_001365088.1:c.379G>A MANE Select	NP_001352017.1:p.Glu127Lys
XM_006720793.4:c.379G>A	XP_006720856.1:p.Glu127Lys
XM_011522269.3:c.379G>A	XP_011520571.1:p.Glu127Lys
XR_931960.3:n.1629G>A
NM_001042494.2:c.202G>A	NP_001035959.1:p.Glu68Lys
NM_001042495.2:c.202G>A	NP_001035960.1:p.Glu68Lys
NM_001042496.2:c.352G>A	NP_001035961.1:p.Glu118Lys
NM_001042497.2:c.334G>A	NP_001035962.1:p.Glu112Lys
NM_133647.2:c.379G>A	NP_598408.1:p.Glu127Lys