Canonical Allele Identifier: CA391613158

Gene: SLC12A6

Linked Data

• MyVariant Identifiers: chr15:g.34549978C>G (hg19) ; chr15:g.34257777C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34257777C>G , CM000677.2:g.34257777C>G	GRCh38
NC_000015.9:g.34549978C>G , CM000677.1:g.34549978C>G	GRCh37
NC_000015.8:g.32337270C>G	NCBI36
NG_007951.1:g.85288G>C , LRG_270:g.85288G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354181.8:c.555G>C MANE Select	ENSP00000346112.3:p.Met185Ile
ENST00000675289.1:n.1337G>C
ENST00000676379.1:c.555G>C	ENSP00000502539.1:p.Met185Ile
ENST00000290209.9:c.402G>C	ENSP00000290209.5:p.Met134Ile
ENST00000354181.7:c.555G>C	ENSP00000346112.3:p.Met185Ile
ENST00000397702.6:c.378G>C	ENSP00000380814.2:p.Met126Ile
ENST00000397707.6:c.510G>C	ENSP00000380819.2:p.Met170Ile
ENST00000458406.6:c.378G>C	ENSP00000387725.2:p.Met126Ile
ENST00000558589.5:c.528G>C	ENSP00000452776.1:p.Met176Ile
ENST00000558667.5:c.555G>C	ENSP00000453473.1:p.Met185Ile
ENST00000559523.5:c.378G>C	ENSP00000452904.1:p.Met126Ile
ENST00000559664.5:c.555G>C	ENSP00000453702.1:p.Met185Ile
ENST00000560164.5:c.126+1036G>C	ENSP00000452705.1:n.126+1036G>C
ENST00000560332.1:c.138G>C	ENSP00000454037.1:p.Met46Ile
ENST00000560611.5:c.555G>C	ENSP00000454168.1:p.Met185Ile
ENST00000561080.5:c.555G>C	ENSP00000454069.1:p.Met185Ile
NM_001042494.1:c.378G>C	NP_001035959.1:p.Met126Ile
NM_001042495.1:c.378G>C	NP_001035960.1:p.Met126Ile
NM_001042496.1:c.528G>C	NP_001035961.1:p.Met176Ile
NM_001042497.1:c.510G>C	NP_001035962.1:p.Met170Ile
NM_005135.2:c.402G>C , LRG_270t1:c.402G>C	NP_005126.1:p.Met134Ile
NM_133647.1:c.555G>C , LRG_270t2:c.555G>C	NP_598408.1:p.Met185Ile
XM_006720793.2:c.543+1036G>C	XP_006720856.1:n.543+1036G>C
XM_011522267.1:c.555G>C	XP_011520569.1:p.Met185Ile
XM_011522268.1:c.555G>C	XP_011520570.1:p.Met185Ile
XM_011522269.1:c.555G>C	XP_011520571.1:p.Met185Ile
XR_429476.2:n.561G>C
XR_931960.1:n.561G>C
XR_931961.1:n.561G>C
NM_001365088.1:c.555G>C MANE Select	NP_001352017.1:p.Met185Ile
XM_006720793.4:c.543+1036G>C	XP_006720856.1:n.543+1036G>C
XM_011522269.3:c.555G>C	XP_011520571.1:p.Met185Ile
XR_931960.3:n.1805G>C
NM_001042494.2:c.378G>C	NP_001035959.1:p.Met126Ile
NM_001042495.2:c.378G>C	NP_001035960.1:p.Met126Ile
NM_001042496.2:c.528G>C	NP_001035961.1:p.Met176Ile
NM_001042497.2:c.510G>C	NP_001035962.1:p.Met170Ile
NM_133647.2:c.555G>C	NP_598408.1:p.Met185Ile