Canonical Allele Identifier: CA268665093

Gene: SLC12A6

Linked Data

• ClinVar Variation Id: 1915260
• ClinVar RCV Id: RCV002601348
• dbSNP Id: rs1043948398
• MyVariant Identifiers: chr15:g.34536195G>A (hg19) ; chr15:g.34243994G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34243994G>A , CM000677.2:g.34243994G>A	GRCh38
NC_000015.9:g.34536195G>A , CM000677.1:g.34536195G>A	GRCh37
NC_000015.8:g.32323487G>A	NCBI36
NG_007951.1:g.99071C>T , LRG_270:g.99071C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354181.8:c.2022C>T MANE Select	ENSP00000346112.3:p.Pro674=
ENST00000675289.1:n.2804C>T
ENST00000676379.1:c.2022C>T	ENSP00000502539.1:p.Pro674=
ENST00000290209.9:c.1869C>T	ENSP00000290209.5:p.Pro623=
ENST00000354181.7:c.2022C>T	ENSP00000346112.3:p.Pro674=
ENST00000397702.6:c.1845C>T	ENSP00000380814.2:p.Pro615=
ENST00000397707.6:c.1977C>T	ENSP00000380819.2:p.Pro659=
ENST00000458406.6:c.1845C>T	ENSP00000387725.2:p.Pro615=
ENST00000558589.5:c.1995C>T	ENSP00000452776.1:p.Pro665=
ENST00000558667.5:c.2022C>T	ENSP00000453473.1:p.Pro674=
ENST00000559523.5:c.1845C>T	ENSP00000452904.1:p.Pro615=
ENST00000559664.5:c.2022C>T	ENSP00000453702.1:p.Pro674=
ENST00000560023.1:n.135C>T
ENST00000560164.5:c.1458C>T	ENSP00000452705.1:p.Pro486=
ENST00000560611.5:c.2022C>T	ENSP00000454168.1:p.Pro674=
ENST00000561080.5:c.2022C>T	ENSP00000454069.1:p.Pro674=
NM_001042494.1:c.1845C>T	NP_001035959.1:p.Pro615=
NM_001042495.1:c.1845C>T	NP_001035960.1:p.Pro615=
NM_001042496.1:c.1995C>T	NP_001035961.1:p.Pro665=
NM_001042497.1:c.1977C>T	NP_001035962.1:p.Pro659=
NM_005135.2:c.1869C>T , LRG_270t1:c.1869C>T	NP_005126.1:p.Pro623=
NM_133647.1:c.2022C>T , LRG_270t2:c.2022C>T	NP_598408.1:p.Pro674=
XM_006720793.2:c.1875C>T	XP_006720856.1:p.Pro625=
XM_011522267.1:c.2022C>T	XP_011520569.1:p.Pro674=
XM_011522268.1:c.2022C>T	XP_011520570.1:p.Pro674=
XM_011522269.1:c.2022C>T	XP_011520571.1:p.Pro674=
XR_429476.2:n.2028C>T
XR_931960.1:n.2028C>T
XR_931961.1:n.2029C>T
NM_001365088.1:c.2022C>T MANE Select	NP_001352017.1:p.Pro674=
XM_006720793.4:c.1875C>T	XP_006720856.1:p.Pro625=
XM_011522269.3:c.2022C>T	XP_011520571.1:p.Pro674=
XR_931960.3:n.3272C>T
NM_001042494.2:c.1845C>T	NP_001035959.1:p.Pro615=
NM_001042495.2:c.1845C>T	NP_001035960.1:p.Pro615=
NM_001042496.2:c.1995C>T	NP_001035961.1:p.Pro665=
NM_001042497.2:c.1977C>T	NP_001035962.1:p.Pro659=
NM_133647.2:c.2022C>T	NP_598408.1:p.Pro674=