Canonical Allele Identifier: CA7463904

Gene: SLC12A6

Linked Data

• dbSNP Id: rs756712136
• ExAC: 15:34528223 T / C
• MyVariant Identifiers: chr15:g.34528223T>C (hg19) ; chr15:g.34236022T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34236022T>C , CM000677.2:g.34236022T>C	GRCh38
NC_000015.9:g.34528223T>C , CM000677.1:g.34528223T>C	GRCh37
NC_000015.8:g.32315515T>C	NCBI36
NG_007951.1:g.107043A>G , LRG_270:g.107043A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000354181.8:c.3220A>G MANE Select	ENSP00000346112.3:p.Met1074Val
ENST00000676379.1:c.3220A>G	ENSP00000502539.1:p.Met1074Val
ENST00000290209.9:c.3067A>G	ENSP00000290209.5:p.Met1023Val
ENST00000354181.7:c.3220A>G	ENSP00000346112.3:p.Met1074Val
ENST00000397702.6:c.3043A>G	ENSP00000380814.2:p.Met1015Val
ENST00000397707.6:c.3175A>G	ENSP00000380819.2:p.Met1059Val
ENST00000458406.6:c.3043A>G	ENSP00000387725.2:p.Met1015Val
ENST00000558589.5:c.3193A>G	ENSP00000452776.1:p.Met1065Val
ENST00000558667.5:c.3220A>G	ENSP00000453473.1:p.Met1074Val
ENST00000559523.5:c.*243A>G	ENSP00000452904.1:n.*243A>G
ENST00000559664.5:c.*429A>G	ENSP00000453702.1:n.*429A>G
ENST00000560164.5:c.2656A>G	ENSP00000452705.1:p.Met886Val
ENST00000560611.5:c.3220A>G	ENSP00000454168.1:p.Met1074Val
ENST00000561080.5:c.*458A>G	ENSP00000454069.1:n.*458A>G
NM_001042494.1:c.3043A>G	NP_001035959.1:p.Met1015Val
NM_001042495.1:c.3043A>G	NP_001035960.1:p.Met1015Val
NM_001042496.1:c.3193A>G	NP_001035961.1:p.Met1065Val
NM_001042497.1:c.3175A>G	NP_001035962.1:p.Met1059Val
NM_005135.2:c.3067A>G , LRG_270t1:c.3067A>G	NP_005126.1:p.Met1023Val
NM_133647.1:c.3220A>G , LRG_270t2:c.3220A>G	NP_598408.1:p.Met1074Val
XM_006720793.2:c.3073A>G	XP_006720856.1:p.Met1025Val
XM_011522267.1:c.3220A>G	XP_011520569.1:p.Met1074Val
XM_011522268.1:c.3220A>G	XP_011520570.1:p.Met1074Val
XR_429476.2:n.3226A>G
NM_001365088.1:c.3220A>G MANE Select	NP_001352017.1:p.Met1074Val
XM_006720793.4:c.3073A>G	XP_006720856.1:p.Met1025Val
XR_931960.3:n.4499A>G
NM_001042494.2:c.3043A>G	NP_001035959.1:p.Met1015Val
NM_001042495.2:c.3043A>G	NP_001035960.1:p.Met1015Val
NM_001042496.2:c.3193A>G	NP_001035961.1:p.Met1065Val
NM_001042497.2:c.3175A>G	NP_001035962.1:p.Met1059Val
NM_133647.2:c.3220A>G	NP_598408.1:p.Met1074Val