Canonical Allele Identifier: CA2346475206

Gene: SLC4A11

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3228855G= , CM000682.2:g.3228855G=	GRCh38
NC_000020.10:g.3209501G= , CM000682.1:g.3209501G=	GRCh37
NC_000020.9:g.3157501G=	NCBI36
NG_017072.1:g.15387C=
NG_012093.2:g.24989G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000642402.1:c.2175C= MANE Select	ENSP00000493503.1:p.Asn725=
ENST00000644011.1:c.2106C=	ENSP00000496214.1:p.Asn702=
ENST00000644692.1:c.2046C=	ENSP00000493824.1:p.Asn682=
ENST00000647296.1:c.2061C=	ENSP00000495050.1:p.Asn687=
ENST00000380056.7:c.2223C=	ENSP00000369396.3:p.Asn741=
ENST00000380059.7:c.2304C=	ENSP00000369399.3:p.Asn768=
ENST00000474451.5:c.*323C=	ENSP00000476859.1:n.*323C=
ENST00000539553.6:c.2175C=	ENSP00000441370.1:p.Asn725=
NM_001174089.1:c.2175C=	NP_001167560.1:p.Asn725=
NM_001174090.1:c.2304C=	NP_001167561.1:p.Asn768=
NM_032034.3:c.2223C=	NP_114423.1:p.Asn741=
XM_005260856.3:c.2544C=	XP_005260913.1:p.Asn848=
XM_005260857.1:c.2118C=	XP_005260914.1:p.Asn706=
XM_011529383.1:c.2142C=	XP_011527685.1:p.Asn714=
XM_011529384.1:c.2118C=	XP_011527686.1:p.Asn706=
XM_011529385.1:c.2118C=	XP_011527687.1:p.Asn706=
XR_937167.1:n.2273C=
NM_001363745.1:c.2061C=	NP_001350674.1:p.Asn687=
NR_135000.1:n.2273C=
XM_005260856.5:c.2544C=	XP_005260913.1:p.Asn848=
XM_011529383.3:c.2142C=	XP_011527685.1:p.Asn714=
XM_017028093.1:c.2538C=	XP_016883582.1:p.Asn846=
XM_017028094.1:c.2118C=	XP_016883583.1:p.Asn706=
XM_017028096.1:c.2118C=	XP_016883585.1:p.Asn706=
XR_001754419.1:n.2718C=
XR_001754420.2:n.2698C=
NM_001174089.2:c.2175C= MANE Select	NP_001167560.1:p.Asn725=
NM_001363745.2:c.2061C=	NP_001350674.1:p.Asn687=
NM_001174090.2:c.2304C=	NP_001167561.1:p.Asn768=
NM_032034.4:c.2223C=	NP_114423.1:p.Asn741=
NM_001400277.1:c.2118C=	NP_001387206.1:p.Asn706=
NM_001400278.1:c.2118C=	NP_001387207.1:p.Asn706=
NM_001400279.1:c.2118C=	NP_001387208.1:p.Asn706=
NM_001400280.1:c.2190C=	NP_001387209.1:p.Asn730=
NR_174470.1:n.2698C=
NR_174471.1:n.2683C=