Canonical Allele Identifier: CA391613222

Gene: SLC12A6

Linked Data

• MyVariant Identifiers: chr15:g.34549991T>G (hg19) ; chr15:g.34257790T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34257790T>G , CM000677.2:g.34257790T>G	GRCh38
NC_000015.9:g.34549991T>G , CM000677.1:g.34549991T>G	GRCh37
NC_000015.8:g.32337283T>G	NCBI36
NG_007951.1:g.85275A>C , LRG_270:g.85275A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354181.8:c.544-2A>C MANE Select	ENSP00000346112.3:n.544-2A>C
ENST00000675289.1:n.1326-2A>C
ENST00000676379.1:c.544-2A>C	ENSP00000502539.1:n.544-2A>C
ENST00000290209.9:c.391-2A>C	ENSP00000290209.5:n.391-2A>C
ENST00000354181.7:c.544-2A>C	ENSP00000346112.3:n.544-2A>C
ENST00000397702.6:c.367-2A>C	ENSP00000380814.2:n.367-2A>C
ENST00000397707.6:c.499-2A>C	ENSP00000380819.2:n.499-2A>C
ENST00000458406.6:c.367-2A>C	ENSP00000387725.2:n.367-2A>C
ENST00000558589.5:c.517-2A>C	ENSP00000452776.1:n.517-2A>C
ENST00000558667.5:c.544-2A>C	ENSP00000453473.1:n.544-2A>C
ENST00000559523.5:c.367-2A>C	ENSP00000452904.1:n.367-2A>C
ENST00000559664.5:c.544-2A>C	ENSP00000453702.1:n.544-2A>C
ENST00000560164.5:c.126+1023A>C	ENSP00000452705.1:n.126+1023A>C
ENST00000560332.1:c.127-2A>C	ENSP00000454037.1:n.127-2A>C
ENST00000560611.5:c.544-2A>C	ENSP00000454168.1:n.544-2A>C
ENST00000561080.5:c.544-2A>C	ENSP00000454069.1:n.544-2A>C
NM_001042494.1:c.367-2A>C	NP_001035959.1:n.367-2A>C
NM_001042495.1:c.367-2A>C	NP_001035960.1:n.367-2A>C
NM_001042496.1:c.517-2A>C	NP_001035961.1:n.517-2A>C
NM_001042497.1:c.499-2A>C	NP_001035962.1:n.499-2A>C
NM_005135.2:c.391-2A>C , LRG_270t1:c.391-2A>C	NP_005126.1:n.391-2A>C
NM_133647.1:c.544-2A>C , LRG_270t2:c.544-2A>C	NP_598408.1:n.544-2A>C
XM_006720793.2:c.543+1023A>C	XP_006720856.1:n.543+1023A>C
XM_011522267.1:c.544-2A>C	XP_011520569.1:n.544-2A>C
XM_011522268.1:c.544-2A>C	XP_011520570.1:n.544-2A>C
XM_011522269.1:c.544-2A>C	XP_011520571.1:n.544-2A>C
XR_429476.2:n.550-2A>C
XR_931960.1:n.550-2A>C
XR_931961.1:n.550-2A>C
NM_001365088.1:c.544-2A>C MANE Select	NP_001352017.1:n.544-2A>C
XM_006720793.4:c.543+1023A>C	XP_006720856.1:n.543+1023A>C
XM_011522269.3:c.544-2A>C	XP_011520571.1:n.544-2A>C
XR_931960.3:n.1794-2A>C
NM_001042494.2:c.367-2A>C	NP_001035959.1:n.367-2A>C
NM_001042495.2:c.367-2A>C	NP_001035960.1:n.367-2A>C
NM_001042496.2:c.517-2A>C	NP_001035961.1:n.517-2A>C
NM_001042497.2:c.499-2A>C	NP_001035962.1:n.499-2A>C
NM_133647.2:c.544-2A>C	NP_598408.1:n.544-2A>C