Canonical Allele Identifier: CA10635818

Gene: SLC12A6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34233787C>G , CM000677.2:g.34233787C>G	GRCh38
NC_000015.9:g.34525988C>G , CM000677.1:g.34525988C>G	GRCh37
NC_000015.8:g.32313280C>G	NCBI36
NG_007951.1:g.109278G>C , LRG_270:g.109278G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354181.8:c.*94G>C MANE Select	ENSP00000346112.3:n.*94G>C
ENST00000676379.1:c.3362-600G>C	ENSP00000502539.1:n.3362-600G>C
ENST00000290209.9:c.*94G>C	ENSP00000290209.5:n.*94G>C
ENST00000354181.7:c.*94G>C	ENSP00000346112.3:n.*94G>C
ENST00000397702.6:c.*94G>C	ENSP00000380814.2:n.*94G>C
ENST00000397707.6:c.*94G>C	ENSP00000380819.2:n.*94G>C
ENST00000458406.6:c.*94G>C	ENSP00000387725.2:n.*94G>C
ENST00000558667.5:c.*94G>C	ENSP00000453473.1:n.*94G>C
ENST00000559523.5:c.*570G>C	ENSP00000452904.1:n.*570G>C
ENST00000559664.5:c.*756G>C	ENSP00000453702.1:n.*756G>C
ENST00000560164.5:c.*94G>C	ENSP00000452705.1:n.*94G>C
ENST00000560611.5:c.*94G>C	ENSP00000454168.1:n.*94G>C
ENST00000561080.5:c.*785G>C	ENSP00000454069.1:n.*785G>C
NM_001042494.1:c.*94G>C	NP_001035959.1:n.*94G>C
NM_001042495.1:c.*94G>C	NP_001035960.1:n.*94G>C
NM_001042496.1:c.*94G>C	NP_001035961.1:n.*94G>C
NM_001042497.1:c.*94G>C	NP_001035962.1:n.*94G>C
NM_005135.2:c.*94G>C , LRG_270t1:c.*94G>C	NP_005126.1:n.*94G>C
NM_133647.1:c.*94G>C , LRG_270t2:c.*94G>C	NP_598408.1:n.*94G>C
XM_006720793.2:c.*94G>C	XP_006720856.1:n.*94G>C
XM_011522267.1:c.*94G>C	XP_011520569.1:n.*94G>C
XM_011522268.1:c.*94G>C	XP_011520570.1:n.*94G>C
XR_429476.2:n.3553G>C
NM_001365088.1:c.*94G>C MANE Select	NP_001352017.1:n.*94G>C
XM_006720793.4:c.*94G>C	XP_006720856.1:n.*94G>C
NM_001042494.2:c.*94G>C	NP_001035959.1:n.*94G>C
NM_001042495.2:c.*94G>C	NP_001035960.1:n.*94G>C
NM_001042496.2:c.*94G>C	NP_001035961.1:n.*94G>C
NM_001042497.2:c.*94G>C	NP_001035962.1:n.*94G>C
NM_133647.2:c.*94G>C	NP_598408.1:n.*94G>C