Canonical Allele Identifier: CA408086742
Gene: SLC4A11 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3228856T>A , CM000682.2:g.3228856T>A GRCh38
NC_000020.10:g.3209502T>A , CM000682.1:g.3209502T>A GRCh37
NC_000020.9:g.3157502T>A NCBI36
NG_017072.1:g.15386A>T
NG_012093.2:g.24990T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000642402.1:c.2174A>T MANE Select ENSP00000493503.1:p.Asn725Ile
ENST00000644011.1:c.2105A>T ENSP00000496214.1:p.Asn702Ile
ENST00000644692.1:c.2045A>T ENSP00000493824.1:p.Asn682Ile
ENST00000647296.1:c.2060A>T ENSP00000495050.1:p.Asn687Ile
ENST00000380056.7:c.2222A>T ENSP00000369396.3:p.Asn741Ile
ENST00000380059.7:c.2303A>T ENSP00000369399.3:p.Asn768Ile
ENST00000474451.5:c.*322A>T ENSP00000476859.1:n.*322A>T
ENST00000539553.6:c.2174A>T ENSP00000441370.1:p.Asn725Ile
NM_001174089.1:c.2174A>T NP_001167560.1:p.Asn725Ile
NM_001174090.1:c.2303A>T NP_001167561.1:p.Asn768Ile
NM_032034.3:c.2222A>T NP_114423.1:p.Asn741Ile
XM_005260856.3:c.2543A>T XP_005260913.1:p.Asn848Ile
XM_005260857.1:c.2117A>T XP_005260914.1:p.Asn706Ile
XM_011529383.1:c.2141A>T XP_011527685.1:p.Asn714Ile
XM_011529384.1:c.2117A>T XP_011527686.1:p.Asn706Ile
XM_011529385.1:c.2117A>T XP_011527687.1:p.Asn706Ile
XR_937167.1:n.2272A>T
NM_001363745.1:c.2060A>T NP_001350674.1:p.Asn687Ile
NR_135000.1:n.2272A>T
XM_005260856.5:c.2543A>T XP_005260913.1:p.Asn848Ile
XM_011529383.3:c.2141A>T XP_011527685.1:p.Asn714Ile
XM_017028093.1:c.2537A>T XP_016883582.1:p.Asn846Ile
XM_017028094.1:c.2117A>T XP_016883583.1:p.Asn706Ile
XM_017028096.1:c.2117A>T XP_016883585.1:p.Asn706Ile
XR_001754419.1:n.2717A>T
XR_001754420.2:n.2697A>T
NM_001174089.2:c.2174A>T MANE Select NP_001167560.1:p.Asn725Ile
NM_001363745.2:c.2060A>T NP_001350674.1:p.Asn687Ile
NM_001174090.2:c.2303A>T NP_001167561.1:p.Asn768Ile
NM_032034.4:c.2222A>T NP_114423.1:p.Asn741Ile
NM_001400277.1:c.2117A>T NP_001387206.1:p.Asn706Ile
NM_001400278.1:c.2117A>T NP_001387207.1:p.Asn706Ile
NM_001400279.1:c.2117A>T NP_001387208.1:p.Asn706Ile
NM_001400280.1:c.2189A>T NP_001387209.1:p.Asn730Ile
NR_174470.1:n.2697A>T
NR_174471.1:n.2682A>T