Canonical Allele Identifier: CA7464536

Gene: SLC12A6

Linked Data

• dbSNP Id: rs760479313
• ExAC: 15:34549988 G / C
• gnomAD v2: 15-34549988-G-C
• MyVariant Identifiers: chr15:g.34549988G>C (hg19) ; chr15:g.34257787G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34257787G>C , CM000677.2:g.34257787G>C	GRCh38
NC_000015.9:g.34549988G>C , CM000677.1:g.34549988G>C	GRCh37
NC_000015.8:g.32337280G>C	NCBI36
NG_007951.1:g.85278C>G , LRG_270:g.85278C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354181.8:c.545C>G MANE Select	ENSP00000346112.3:p.Thr182Ser
ENST00000675289.1:n.1327C>G
ENST00000676379.1:c.545C>G	ENSP00000502539.1:p.Thr182Ser
ENST00000290209.9:c.392C>G	ENSP00000290209.5:p.Thr131Ser
ENST00000354181.7:c.545C>G	ENSP00000346112.3:p.Thr182Ser
ENST00000397702.6:c.368C>G	ENSP00000380814.2:p.Thr123Ser
ENST00000397707.6:c.500C>G	ENSP00000380819.2:p.Thr167Ser
ENST00000458406.6:c.368C>G	ENSP00000387725.2:p.Thr123Ser
ENST00000558589.5:c.518C>G	ENSP00000452776.1:p.Thr173Ser
ENST00000558667.5:c.545C>G	ENSP00000453473.1:p.Thr182Ser
ENST00000559523.5:c.368C>G	ENSP00000452904.1:p.Thr123Ser
ENST00000559664.5:c.545C>G	ENSP00000453702.1:p.Thr182Ser
ENST00000560164.5:c.126+1026C>G	ENSP00000452705.1:n.126+1026C>G
ENST00000560332.1:c.128C>G	ENSP00000454037.1:p.Thr43Ser
ENST00000560611.5:c.545C>G	ENSP00000454168.1:p.Thr182Ser
ENST00000561080.5:c.545C>G	ENSP00000454069.1:p.Thr182Ser
NM_001042494.1:c.368C>G	NP_001035959.1:p.Thr123Ser
NM_001042495.1:c.368C>G	NP_001035960.1:p.Thr123Ser
NM_001042496.1:c.518C>G	NP_001035961.1:p.Thr173Ser
NM_001042497.1:c.500C>G	NP_001035962.1:p.Thr167Ser
NM_005135.2:c.392C>G , LRG_270t1:c.392C>G	NP_005126.1:p.Thr131Ser
NM_133647.1:c.545C>G , LRG_270t2:c.545C>G	NP_598408.1:p.Thr182Ser
XM_006720793.2:c.543+1026C>G	XP_006720856.1:n.543+1026C>G
XM_011522267.1:c.545C>G	XP_011520569.1:p.Thr182Ser
XM_011522268.1:c.545C>G	XP_011520570.1:p.Thr182Ser
XM_011522269.1:c.545C>G	XP_011520571.1:p.Thr182Ser
XR_429476.2:n.551C>G
XR_931960.1:n.551C>G
XR_931961.1:n.551C>G
NM_001365088.1:c.545C>G MANE Select	NP_001352017.1:p.Thr182Ser
XM_006720793.4:c.543+1026C>G	XP_006720856.1:n.543+1026C>G
XM_011522269.3:c.545C>G	XP_011520571.1:p.Thr182Ser
XR_931960.3:n.1795C>G
NM_001042494.2:c.368C>G	NP_001035959.1:p.Thr123Ser
NM_001042495.2:c.368C>G	NP_001035960.1:p.Thr123Ser
NM_001042496.2:c.518C>G	NP_001035961.1:p.Thr173Ser
NM_001042497.2:c.500C>G	NP_001035962.1:p.Thr167Ser
NM_133647.2:c.545C>G	NP_598408.1:p.Thr182Ser