Canonical Allele Identifier: CA7463905

Gene: SLC12A6

Linked Data

• dbSNP Id: rs764677244
• ExAC: 15:34528230 C / G
• gnomAD v4: 15-34236029-C-G
• MyVariant Identifiers: chr15:g.34528230C>G (hg19) ; chr15:g.34236029C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34236029C>G , CM000677.2:g.34236029C>G	GRCh38
NC_000015.9:g.34528230C>G , CM000677.1:g.34528230C>G	GRCh37
NC_000015.8:g.32315522C>G	NCBI36
NG_007951.1:g.107036G>C , LRG_270:g.107036G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000354181.8:c.3213G>C MANE Select	ENSP00000346112.3:p.Leu1071=
ENST00000676379.1:c.3213G>C	ENSP00000502539.1:p.Leu1071=
ENST00000290209.9:c.3060G>C	ENSP00000290209.5:p.Leu1020=
ENST00000354181.7:c.3213G>C	ENSP00000346112.3:p.Leu1071=
ENST00000397702.6:c.3036G>C	ENSP00000380814.2:p.Leu1012=
ENST00000397707.6:c.3168G>C	ENSP00000380819.2:p.Leu1056=
ENST00000458406.6:c.3036G>C	ENSP00000387725.2:p.Leu1012=
ENST00000558589.5:c.3186G>C	ENSP00000452776.1:p.Leu1062=
ENST00000558667.5:c.3213G>C	ENSP00000453473.1:p.Leu1071=
ENST00000559523.5:c.*236G>C	ENSP00000452904.1:n.*236G>C
ENST00000559664.5:c.*422G>C	ENSP00000453702.1:n.*422G>C
ENST00000560164.5:c.2649G>C	ENSP00000452705.1:p.Leu883=
ENST00000560611.5:c.3213G>C	ENSP00000454168.1:p.Leu1071=
ENST00000561080.5:c.*451G>C	ENSP00000454069.1:n.*451G>C
NM_001042494.1:c.3036G>C	NP_001035959.1:p.Leu1012=
NM_001042495.1:c.3036G>C	NP_001035960.1:p.Leu1012=
NM_001042496.1:c.3186G>C	NP_001035961.1:p.Leu1062=
NM_001042497.1:c.3168G>C	NP_001035962.1:p.Leu1056=
NM_005135.2:c.3060G>C , LRG_270t1:c.3060G>C	NP_005126.1:p.Leu1020=
NM_133647.1:c.3213G>C , LRG_270t2:c.3213G>C	NP_598408.1:p.Leu1071=
XM_006720793.2:c.3066G>C	XP_006720856.1:p.Leu1022=
XM_011522267.1:c.3213G>C	XP_011520569.1:p.Leu1071=
XM_011522268.1:c.3213G>C	XP_011520570.1:p.Leu1071=
XR_429476.2:n.3219G>C
NM_001365088.1:c.3213G>C MANE Select	NP_001352017.1:p.Leu1071=
XM_006720793.4:c.3066G>C	XP_006720856.1:p.Leu1022=
XR_931960.3:n.4492G>C
NM_001042494.2:c.3036G>C	NP_001035959.1:p.Leu1012=
NM_001042495.2:c.3036G>C	NP_001035960.1:p.Leu1012=
NM_001042496.2:c.3186G>C	NP_001035961.1:p.Leu1062=
NM_001042497.2:c.3168G>C	NP_001035962.1:p.Leu1056=
NM_133647.2:c.3213G>C	NP_598408.1:p.Leu1071=