Canonical Allele Identifier: CA391617460

Gene: SLC12A6

Linked Data

• MyVariant Identifiers: chr15:g.34528231A>C (hg19) ; chr15:g.34236030A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34236030A>C , CM000677.2:g.34236030A>C	GRCh38
NC_000015.9:g.34528231A>C , CM000677.1:g.34528231A>C	GRCh37
NC_000015.8:g.32315523A>C	NCBI36
NG_007951.1:g.107035T>G , LRG_270:g.107035T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000354181.8:c.3212T>G MANE Select	ENSP00000346112.3:p.Leu1071Arg
ENST00000676379.1:c.3212T>G	ENSP00000502539.1:p.Leu1071Arg
ENST00000290209.9:c.3059T>G	ENSP00000290209.5:p.Leu1020Arg
ENST00000354181.7:c.3212T>G	ENSP00000346112.3:p.Leu1071Arg
ENST00000397702.6:c.3035T>G	ENSP00000380814.2:p.Leu1012Arg
ENST00000397707.6:c.3167T>G	ENSP00000380819.2:p.Leu1056Arg
ENST00000458406.6:c.3035T>G	ENSP00000387725.2:p.Leu1012Arg
ENST00000558589.5:c.3185T>G	ENSP00000452776.1:p.Leu1062Arg
ENST00000558667.5:c.3212T>G	ENSP00000453473.1:p.Leu1071Arg
ENST00000559523.5:c.*235T>G	ENSP00000452904.1:n.*235T>G
ENST00000559664.5:c.*421T>G	ENSP00000453702.1:n.*421T>G
ENST00000560164.5:c.2648T>G	ENSP00000452705.1:p.Leu883Arg
ENST00000560611.5:c.3212T>G	ENSP00000454168.1:p.Leu1071Arg
ENST00000561080.5:c.*450T>G	ENSP00000454069.1:n.*450T>G
NM_001042494.1:c.3035T>G	NP_001035959.1:p.Leu1012Arg
NM_001042495.1:c.3035T>G	NP_001035960.1:p.Leu1012Arg
NM_001042496.1:c.3185T>G	NP_001035961.1:p.Leu1062Arg
NM_001042497.1:c.3167T>G	NP_001035962.1:p.Leu1056Arg
NM_005135.2:c.3059T>G , LRG_270t1:c.3059T>G	NP_005126.1:p.Leu1020Arg
NM_133647.1:c.3212T>G , LRG_270t2:c.3212T>G	NP_598408.1:p.Leu1071Arg
XM_006720793.2:c.3065T>G	XP_006720856.1:p.Leu1022Arg
XM_011522267.1:c.3212T>G	XP_011520569.1:p.Leu1071Arg
XM_011522268.1:c.3212T>G	XP_011520570.1:p.Leu1071Arg
XR_429476.2:n.3218T>G
NM_001365088.1:c.3212T>G MANE Select	NP_001352017.1:p.Leu1071Arg
XM_006720793.4:c.3065T>G	XP_006720856.1:p.Leu1022Arg
XR_931960.3:n.4491T>G
NM_001042494.2:c.3035T>G	NP_001035959.1:p.Leu1012Arg
NM_001042495.2:c.3035T>G	NP_001035960.1:p.Leu1012Arg
NM_001042496.2:c.3185T>G	NP_001035961.1:p.Leu1062Arg
NM_001042497.2:c.3167T>G	NP_001035962.1:p.Leu1056Arg
NM_133647.2:c.3212T>G	NP_598408.1:p.Leu1071Arg