Canonical Allele Identifier: CA2684156511

Gene: SLC12A9

Linked Data

• gnomAD v4: 7-100860653-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100860653A>T , CM000669.2:g.100860653A>T	GRCh38
NC_000007.13:g.100458275A>T , CM000669.1:g.100458275A>T	GRCh37
NC_000007.12:g.100296211A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354161.8:c.1218+421A>T MANE Select	ENSP00000275730.4:n.1218+421A>T
ENST00000354161.7:c.1218+421A>T	ENSP00000275730.4:n.1218+421A>T
ENST00000415287.5:c.951+421A>T	ENSP00000413796.1:n.951+421A>T
ENST00000416675.5:c.642+421A>T	ENSP00000410692.1:n.642+421A>T
ENST00000418037.5:c.426+421A>T	ENSP00000406560.1:n.426+421A>T
ENST00000448342.5:c.*177-359A>T	ENSP00000401583.1:n.*177-359A>T
ENST00000467972.5:n.2502+421A>T
ENST00000475623.1:n.503A>T
ENST00000475687.5:n.2197+421A>T
ENST00000487651.5:n.1918A>T
ENST00000540482.5:c.1218+421A>T	ENSP00000443702.1:n.1218+421A>T
NM_001267812.1:c.1218+421A>T	NP_001254741.1:n.1218+421A>T
NM_001267814.1:c.951+421A>T	NP_001254743.1:n.951+421A>T
NM_020246.3:c.1218+421A>T	NP_064631.2:n.1218+421A>T
XM_005250502.2:c.951+421A>T	XP_005250559.1:n.951+421A>T
XM_005250504.3:c.144+421A>T	XP_005250561.1:n.144+421A>T
XM_006716054.2:c.951+421A>T	XP_006716117.1:n.951+421A>T
XM_006716055.2:c.909+421A>T	XP_006716118.1:n.909+421A>T
XM_011516413.1:c.783+421A>T	XP_011514715.1:n.783+421A>T
XM_011516414.1:c.642+421A>T	XP_011514716.1:n.642+421A>T
NM_001363493.1:c.1218+421A>T	NP_001350422.1:n.1218+421A>T
NM_001363494.1:c.789+421A>T	NP_001350423.1:n.789+421A>T
XM_005250504.4:c.144+421A>T	XP_005250561.1:n.144+421A>T
XM_006716055.3:c.909+421A>T	XP_006716118.1:n.909+421A>T
NM_020246.4:c.1218+421A>T MANE Select	NP_064631.2:n.1218+421A>T
NM_001267814.2:c.951+421A>T	NP_001254743.1:n.951+421A>T
NM_001363493.2:c.1218+421A>T	NP_001350422.1:n.1218+421A>T
NM_001267812.2:c.1218+421A>T	NP_001254741.1:n.1218+421A>T