Canonical Allele Identifier: CA1729531254

Gene: SLC12A9

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100860649G= , CM000669.2:g.100860649G=	GRCh38
NC_000007.13:g.100458271G= , CM000669.1:g.100458271G=	GRCh37
NC_000007.12:g.100296207G=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354161.8:c.1218+417G= MANE Select	ENSP00000275730.4:n.1218+417G=
ENST00000354161.7:c.1218+417G=	ENSP00000275730.4:n.1218+417G=
ENST00000415287.5:c.951+417G=	ENSP00000413796.1:n.951+417G=
ENST00000416675.5:c.642+417G=	ENSP00000410692.1:n.642+417G=
ENST00000418037.5:c.426+417G=	ENSP00000406560.1:n.426+417G=
ENST00000448342.5:c.*177-363G=	ENSP00000401583.1:n.*177-363G=
ENST00000467972.5:n.2502+417G=
ENST00000475623.1:n.499G=
ENST00000475687.5:n.2197+417G=
ENST00000487651.5:n.1914G=
ENST00000540482.5:c.1218+417G=	ENSP00000443702.1:n.1218+417G=
NM_001267812.1:c.1218+417G=	NP_001254741.1:n.1218+417G=
NM_001267814.1:c.951+417G=	NP_001254743.1:n.951+417G=
NM_020246.3:c.1218+417G=	NP_064631.2:n.1218+417G=
XM_005250502.2:c.951+417G=	XP_005250559.1:n.951+417G=
XM_005250504.3:c.144+417G=	XP_005250561.1:n.144+417G=
XM_006716054.2:c.951+417G=	XP_006716117.1:n.951+417G=
XM_006716055.2:c.909+417G=	XP_006716118.1:n.909+417G=
XM_011516413.1:c.783+417G=	XP_011514715.1:n.783+417G=
XM_011516414.1:c.642+417G=	XP_011514716.1:n.642+417G=
NM_001363493.1:c.1218+417G=	NP_001350422.1:n.1218+417G=
NM_001363494.1:c.789+417G=	NP_001350423.1:n.789+417G=
XM_005250504.4:c.144+417G=	XP_005250561.1:n.144+417G=
XM_006716055.3:c.909+417G=	XP_006716118.1:n.909+417G=
NM_020246.4:c.1218+417G= MANE Select	NP_064631.2:n.1218+417G=
NM_001267814.2:c.951+417G=	NP_001254743.1:n.951+417G=
NM_001363493.2:c.1218+417G=	NP_001350422.1:n.1218+417G=
NM_001267812.2:c.1218+417G=	NP_001254741.1:n.1218+417G=