Canonical Allele Identifier: CA408088691

Gene: SLC4A11

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3230587C>A , CM000682.2:g.3230587C>A	GRCh38
NC_000020.10:g.3211233C>A , CM000682.1:g.3211233C>A	GRCh37
NC_000020.9:g.3159233C>A	NCBI36
NG_017072.1:g.13655G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001174089.2:c.1343G>T MANE Select	NP_001167560.1:p.Gly448Val
ENST00000642402.1:c.1343G>T MANE Select	ENSP00000493503.1:p.Gly448Val
NM_001174089.1:c.1343G>T	NP_001167560.1:p.Gly448Val
NM_001174090.1:c.1472G>T	NP_001167561.1:p.Gly491Val
NM_001174090.2:c.1472G>T	NP_001167561.1:p.Gly491Val
NM_001363745.1:c.1229G>T	NP_001350674.1:p.Gly410Val
NM_001363745.2:c.1229G>T	NP_001350674.1:p.Gly410Val
NM_001400277.1:c.1286G>T	NP_001387206.1:p.Gly429Val
NM_001400278.1:c.1286G>T	NP_001387207.1:p.Gly429Val
NM_001400279.1:c.1286G>T	NP_001387208.1:p.Gly429Val
NM_001400280.1:c.1358G>T	NP_001387209.1:p.Gly453Val
NM_032034.3:c.1391G>T	NP_114423.1:p.Gly464Val
NM_032034.4:c.1391G>T	NP_114423.1:p.Gly464Val
NR_135000.1:n.1511G>T
NR_174470.1:n.1901G>T
NR_174471.1:n.1901G>T
ENST00000380056.7:c.1391G>T	ENSP00000369396.3:p.Gly464Val
ENST00000380059.7:c.1472G>T	ENSP00000369399.3:p.Gly491Val
ENST00000474451.5:c.1286G>T	ENSP00000476859.1:p.Gly429Val
ENST00000539553.6:c.1343G>T	ENSP00000441370.1:p.Gly448Val
ENST00000644011.1:c.1274G>T	ENSP00000496214.1:p.Gly425Val
ENST00000644692.1:c.1214G>T	ENSP00000493824.1:p.Gly405Val
ENST00000647296.1:c.1229G>T	ENSP00000495050.1:p.Gly410Val
XM_005260856.3:c.1712G>T	XP_005260913.1:p.Gly571Val
XM_005260856.5:c.1712G>T	XP_005260913.1:p.Gly571Val
XM_005260857.1:c.1286G>T	XP_005260914.1:p.Gly429Val
XM_011529383.1:c.1310G>T	XP_011527685.1:p.Gly437Val
XM_011529383.3:c.1310G>T	XP_011527685.1:p.Gly437Val
XM_011529384.1:c.1286G>T	XP_011527686.1:p.Gly429Val
XM_011529385.1:c.1286G>T	XP_011527687.1:p.Gly429Val
XM_011529386.1:c.1826G>T	XP_011527688.1:p.Gly609Val
XM_017028093.1:c.1826G>T	XP_016883582.1:p.Gly609Val
XM_017028094.1:c.1286G>T	XP_016883583.1:p.Gly429Val
XM_017028096.1:c.1286G>T	XP_016883585.1:p.Gly429Val
XM_017028097.1:c.*58G>T	XP_016883586.1:n.*58G>T
XR_001754419.1:n.1936G>T
XR_001754420.2:n.1936G>T
XR_937167.1:n.1511G>T