Canonical Allele Identifier: CA489413329

Gene: SLC12A6

Linked Data

• ClinVar Variation Id: 1925809
• ClinVar RCV Id: RCV002604892
• dbSNP Id: rs1428652694
• gnomAD v2: 15-34532880-T-C
• gnomAD v3: 15-34240679-T-C
• gnomAD v4: 15-34240679-T-C
• MyVariant Identifiers: chr15:g.34532880T>C (hg19) ; chr15:g.34240679T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34240679T>C , CM000677.2:g.34240679T>C	GRCh38
NC_000015.9:g.34532880T>C , CM000677.1:g.34532880T>C	GRCh37
NC_000015.8:g.32320172T>C	NCBI36
NG_007951.1:g.102386A>G , LRG_270:g.102386A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000354181.8:c.2418A>G MANE Select	ENSP00000346112.3:p.Glu806=
ENST00000676379.1:c.2418A>G	ENSP00000502539.1:p.Glu806=
ENST00000290209.9:c.2265A>G	ENSP00000290209.5:p.Glu755=
ENST00000354181.7:c.2418A>G	ENSP00000346112.3:p.Glu806=
ENST00000397702.6:c.2241A>G	ENSP00000380814.2:p.Glu747=
ENST00000397707.6:c.2373A>G	ENSP00000380819.2:p.Glu791=
ENST00000458406.6:c.2241A>G	ENSP00000387725.2:p.Glu747=
ENST00000558589.5:c.2391A>G	ENSP00000452776.1:p.Glu797=
ENST00000558667.5:c.2418A>G	ENSP00000453473.1:p.Glu806=
ENST00000558950.1:n.366A>G
ENST00000559523.5:c.2241A>G	ENSP00000452904.1:p.Glu747=
ENST00000559664.5:c.2418A>G	ENSP00000453702.1:p.Glu806=
ENST00000560164.5:c.1854A>G	ENSP00000452705.1:p.Glu618=
ENST00000560611.5:c.2418A>G	ENSP00000454168.1:p.Glu806=
ENST00000561080.5:c.2418A>G	ENSP00000454069.1:p.Glu806=
NM_001042494.1:c.2241A>G	NP_001035959.1:p.Glu747=
NM_001042495.1:c.2241A>G	NP_001035960.1:p.Glu747=
NM_001042496.1:c.2391A>G	NP_001035961.1:p.Glu797=
NM_001042497.1:c.2373A>G	NP_001035962.1:p.Glu791=
NM_005135.2:c.2265A>G , LRG_270t1:c.2265A>G	NP_005126.1:p.Glu755=
NM_133647.1:c.2418A>G , LRG_270t2:c.2418A>G	NP_598408.1:p.Glu806=
XM_006720793.2:c.2271A>G	XP_006720856.1:p.Glu757=
XM_011522267.1:c.2418A>G	XP_011520569.1:p.Glu806=
XM_011522268.1:c.2418A>G	XP_011520570.1:p.Glu806=
XR_429476.2:n.2424A>G
XR_931960.1:n.2424A>G
XR_931961.1:n.2425A>G
NM_001365088.1:c.2418A>G MANE Select	NP_001352017.1:p.Glu806=
XM_006720793.4:c.2271A>G	XP_006720856.1:p.Glu757=
XR_931960.3:n.3668A>G
NM_001042494.2:c.2241A>G	NP_001035959.1:p.Glu747=
NM_001042495.2:c.2241A>G	NP_001035960.1:p.Glu747=
NM_001042496.2:c.2391A>G	NP_001035961.1:p.Glu797=
NM_001042497.2:c.2373A>G	NP_001035962.1:p.Glu791=
NM_133647.2:c.2418A>G	NP_598408.1:p.Glu806=