Canonical Allele Identifier: CA391611234

Gene: SLC12A6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34256227A>T , CM000677.2:g.34256227A>T	GRCh38
NC_000015.9:g.34548428A>T , CM000677.1:g.34548428A>T	GRCh37
NC_000015.8:g.32335720A>T	NCBI36
NG_007951.1:g.86838T>A , LRG_270:g.86838T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001365088.1:c.745+2T>A MANE Select	NP_001352017.1:n.745+2T>A
ENST00000354181.8:c.745+2T>A MANE Select	ENSP00000346112.3:n.745+2T>A
NM_001042494.1:c.568+2T>A	NP_001035959.1:n.568+2T>A
NM_001042494.2:c.568+2T>A	NP_001035959.1:n.568+2T>A
NM_001042495.1:c.568+2T>A	NP_001035960.1:n.568+2T>A
NM_001042495.2:c.568+2T>A	NP_001035960.1:n.568+2T>A
NM_001042496.1:c.718+2T>A	NP_001035961.1:n.718+2T>A
NM_001042496.2:c.718+2T>A	NP_001035961.1:n.718+2T>A
NM_001042497.1:c.700+2T>A	NP_001035962.1:n.700+2T>A
NM_001042497.2:c.700+2T>A	NP_001035962.1:n.700+2T>A
NM_005135.2:c.592+2T>A , LRG_270t1:c.592+2T>A	NP_005126.1:n.592+2T>A
NM_133647.1:c.745+2T>A , LRG_270t2:c.745+2T>A	NP_598408.1:n.745+2T>A
NM_133647.2:c.745+2T>A	NP_598408.1:n.745+2T>A
ENST00000290209.9:c.592+2T>A	ENSP00000290209.5:n.592+2T>A
ENST00000354181.7:c.745+2T>A	ENSP00000346112.3:n.745+2T>A
ENST00000397702.6:c.568+2T>A	ENSP00000380814.2:n.568+2T>A
ENST00000397707.6:c.700+2T>A	ENSP00000380819.2:n.700+2T>A
ENST00000458406.6:c.568+2T>A	ENSP00000387725.2:n.568+2T>A
ENST00000558589.5:c.718+2T>A	ENSP00000452776.1:n.718+2T>A
ENST00000558667.5:c.745+2T>A	ENSP00000453473.1:n.745+2T>A
ENST00000559523.5:c.568+2T>A	ENSP00000452904.1:n.568+2T>A
ENST00000559664.5:c.745+2T>A	ENSP00000453702.1:n.745+2T>A
ENST00000560164.5:c.181+2T>A	ENSP00000452705.1:n.181+2T>A
ENST00000560611.5:c.745+2T>A	ENSP00000454168.1:n.745+2T>A
ENST00000561080.5:c.745+2T>A	ENSP00000454069.1:n.745+2T>A
ENST00000675289.1:n.1527+2T>A
ENST00000676379.1:c.745+2T>A	ENSP00000502539.1:n.745+2T>A
XM_006720793.2:c.598+2T>A	XP_006720856.1:n.598+2T>A
XM_006720793.4:c.598+2T>A	XP_006720856.1:n.598+2T>A
XM_011522267.1:c.745+2T>A	XP_011520569.1:n.745+2T>A
XM_011522268.1:c.745+2T>A	XP_011520570.1:n.745+2T>A
XM_011522269.1:c.745+2T>A	XP_011520571.1:n.745+2T>A
XM_011522269.3:c.745+2T>A	XP_011520571.1:n.745+2T>A
XR_429476.2:n.751+2T>A
XR_931960.1:n.751+2T>A
XR_931960.3:n.1995+2T>A
XR_931961.1:n.751+2T>A