Canonical Allele Identifier: CA12476884

Gene: SLC12A9

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100855586T>C , CM000669.2:g.100855586T>C	GRCh38
NC_000007.13:g.100453208T>C , CM000669.1:g.100453208T>C	GRCh37
NC_000007.12:g.100291144T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354161.8:c.317-120T>C MANE Select	ENSP00000275730.4:n.317-120T>C
ENST00000354161.7:c.317-120T>C	ENSP00000275730.4:n.317-120T>C
ENST00000415287.5:c.181+1208T>C	ENSP00000413796.1:n.181+1208T>C
ENST00000416675.5:c.181+1208T>C	ENSP00000410692.1:n.181+1208T>C
ENST00000418037.5:c.-344-1282T>C	ENSP00000406560.1:n.-344-1282T>C
ENST00000434158.1:c.317-120T>C	ENSP00000408571.1:n.317-120T>C
ENST00000448342.5:c.-36+2747T>C	ENSP00000401583.1:n.-36+2747T>C
ENST00000461016.1:n.229-4299T>C
ENST00000462106.1:n.449-120T>C
ENST00000475687.5:n.146T>C
ENST00000540482.5:c.317-120T>C	ENSP00000443702.1:n.317-120T>C
NM_001267812.1:c.317-120T>C	NP_001254741.1:n.317-120T>C
NM_001267814.1:c.181+1208T>C	NP_001254743.1:n.181+1208T>C
NM_020246.3:c.317-120T>C	NP_064631.2:n.317-120T>C
XM_005250502.2:c.181+1208T>C	XP_005250559.1:n.181+1208T>C
XM_006716054.2:c.181+1208T>C	XP_006716117.1:n.181+1208T>C
XM_006716055.2:c.317-120T>C	XP_006716118.1:n.317-120T>C
XM_011516413.1:c.14-1282T>C	XP_011514715.1:n.14-1282T>C
XM_011516414.1:c.181+1208T>C	XP_011514716.1:n.181+1208T>C
NM_001363493.1:c.317-120T>C	NP_001350422.1:n.317-120T>C
NM_001363494.1:c.20-1282T>C	NP_001350423.1:n.20-1282T>C
XM_006716055.3:c.317-120T>C	XP_006716118.1:n.317-120T>C
NM_020246.4:c.317-120T>C MANE Select	NP_064631.2:n.317-120T>C
NM_001267814.2:c.181+1208T>C	NP_001254743.1:n.181+1208T>C
NM_001363493.2:c.317-120T>C	NP_001350422.1:n.317-120T>C
NM_001267812.2:c.317-120T>C	NP_001254741.1:n.317-120T>C