Canonical Allele Identifier: CA7464527

Gene: SLC12A6

Linked Data

• dbSNP Id: rs747412453
• ExAC: 15:34549882 A / G
• gnomAD v2: 15-34549882-A-G
• gnomAD v4: 15-34257681-A-G
• MyVariant Identifiers: chr15:g.34549882A>G (hg19) ; chr15:g.34257681A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34257681A>G , CM000677.2:g.34257681A>G	GRCh38
NC_000015.9:g.34549882A>G , CM000677.1:g.34549882A>G	GRCh37
NC_000015.8:g.32337174A>G	NCBI36
NG_007951.1:g.85384T>C , LRG_270:g.85384T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354181.8:c.651T>C MANE Select	ENSP00000346112.3:p.Val217=
ENST00000675289.1:n.1433T>C
ENST00000676379.1:c.651T>C	ENSP00000502539.1:p.Val217=
ENST00000290209.9:c.498T>C	ENSP00000290209.5:p.Val166=
ENST00000354181.7:c.651T>C	ENSP00000346112.3:p.Val217=
ENST00000397702.6:c.474T>C	ENSP00000380814.2:p.Val158=
ENST00000397707.6:c.606T>C	ENSP00000380819.2:p.Val202=
ENST00000458406.6:c.474T>C	ENSP00000387725.2:p.Val158=
ENST00000558589.5:c.624T>C	ENSP00000452776.1:p.Val208=
ENST00000558667.5:c.651T>C	ENSP00000453473.1:p.Val217=
ENST00000559523.5:c.474T>C	ENSP00000452904.1:p.Val158=
ENST00000559664.5:c.651T>C	ENSP00000453702.1:p.Val217=
ENST00000560164.5:c.126+1132T>C	ENSP00000452705.1:n.126+1132T>C
ENST00000560332.1:c.234T>C	ENSP00000454037.1:p.Val78=
ENST00000560611.5:c.651T>C	ENSP00000454168.1:p.Val217=
ENST00000561080.5:c.651T>C	ENSP00000454069.1:p.Val217=
NM_001042494.1:c.474T>C	NP_001035959.1:p.Val158=
NM_001042495.1:c.474T>C	NP_001035960.1:p.Val158=
NM_001042496.1:c.624T>C	NP_001035961.1:p.Val208=
NM_001042497.1:c.606T>C	NP_001035962.1:p.Val202=
NM_005135.2:c.498T>C , LRG_270t1:c.498T>C	NP_005126.1:p.Val166=
NM_133647.1:c.651T>C , LRG_270t2:c.651T>C	NP_598408.1:p.Val217=
XM_006720793.2:c.543+1132T>C	XP_006720856.1:n.543+1132T>C
XM_011522267.1:c.651T>C	XP_011520569.1:p.Val217=
XM_011522268.1:c.651T>C	XP_011520570.1:p.Val217=
XM_011522269.1:c.651T>C	XP_011520571.1:p.Val217=
XR_429476.2:n.657T>C
XR_931960.1:n.657T>C
XR_931961.1:n.657T>C
NM_001365088.1:c.651T>C MANE Select	NP_001352017.1:p.Val217=
XM_006720793.4:c.543+1132T>C	XP_006720856.1:n.543+1132T>C
XM_011522269.3:c.651T>C	XP_011520571.1:p.Val217=
XR_931960.3:n.1901T>C
NM_001042494.2:c.474T>C	NP_001035959.1:p.Val158=
NM_001042495.2:c.474T>C	NP_001035960.1:p.Val158=
NM_001042496.2:c.624T>C	NP_001035961.1:p.Val208=
NM_001042497.2:c.606T>C	NP_001035962.1:p.Val202=
NM_133647.2:c.651T>C	NP_598408.1:p.Val217=