Canonical Allele Identifier: CA10645670

Gene: SLC12A6

Linked Data

• ClinVar Variation Id: 315579
• ClinVar RCV Id: RCV000285013
• dbSNP Id: rs886051043
• gnomAD v2: 15-34523994-G-A
• gnomAD v3: 15-34231793-G-A
• gnomAD v4: 15-34231793-G-A
• MyVariant Identifiers: chr15:g.34523994G>A (hg19) ; chr15:g.34231793G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34231793G>A , CM000677.2:g.34231793G>A	GRCh38
NC_000015.9:g.34523994G>A , CM000677.1:g.34523994G>A	GRCh37
NC_000015.8:g.32311286G>A	NCBI36
NG_007951.1:g.111272C>T , LRG_270:g.111272C>T
NG_054746.1:g.11797G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000354181.8:c.*2088C>T MANE Select	ENSP00000346112.3:n.*2088C>T
ENST00000676379.1:c.*707C>T	ENSP00000502539.1:n.*707C>T
ENST00000290209.9:c.*2088C>T	ENSP00000290209.5:n.*2088C>T
NM_001042494.1:c.*2088C>T	NP_001035959.1:n.*2088C>T
NM_001042495.1:c.*2088C>T	NP_001035960.1:n.*2088C>T
NM_001042496.1:c.*2088C>T	NP_001035961.1:n.*2088C>T
NM_001042497.1:c.*2088C>T	NP_001035962.1:n.*2088C>T
NM_005135.2:c.*2088C>T , LRG_270t1:c.*2088C>T	NP_005126.1:n.*2088C>T
NM_133647.1:c.*2088C>T , LRG_270t2:c.*2088C>T	NP_598408.1:n.*2088C>T
XM_011522267.1:c.*2088C>T	XP_011520569.1:n.*2088C>T
XM_011522268.1:c.*2088C>T	XP_011520570.1:n.*2088C>T
XR_429476.2:n.5456+91C>T
NM_001365088.1:c.*2088C>T MANE Select	NP_001352017.1:n.*2088C>T
XM_006720793.4:c.*2088C>T	XP_006720856.1:n.*2088C>T
NM_001042494.2:c.*2088C>T	NP_001035959.1:n.*2088C>T
NM_001042495.2:c.*2088C>T	NP_001035960.1:n.*2088C>T
NM_001042496.2:c.*2088C>T	NP_001035961.1:n.*2088C>T
NM_001042497.2:c.*2088C>T	NP_001035962.1:n.*2088C>T
NM_133647.2:c.*2088C>T	NP_598408.1:n.*2088C>T