Canonical Allele Identifier: CA2346475940

Gene: SLC4A11

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3230258G= , CM000682.2:g.3230258G=	GRCh38
NC_000020.10:g.3210904G= , CM000682.1:g.3210904G=	GRCh37
NC_000020.9:g.3158904G=	NCBI36
NG_017072.1:g.13984C=

Transcript Alleles

HGVS	Amino-acid Change
NM_001174089.2:c.1418C= MANE Select	NP_001167560.1:p.Ser473=
ENST00000642402.1:c.1418C= MANE Select	ENSP00000493503.1:p.Ser473=
NM_001174089.1:c.1418C=	NP_001167560.1:p.Ser473=
NM_001174090.1:c.1547C=	NP_001167561.1:p.Ser516=
NM_001174090.2:c.1547C=	NP_001167561.1:p.Ser516=
NM_001363745.1:c.1304C=	NP_001350674.1:p.Ser435=
NM_001363745.2:c.1304C=	NP_001350674.1:p.Ser435=
NM_001400277.1:c.1361C=	NP_001387206.1:p.Ser454=
NM_001400278.1:c.1361C=	NP_001387207.1:p.Ser454=
NM_001400279.1:c.1361C=	NP_001387208.1:p.Ser454=
NM_001400280.1:c.1433C=	NP_001387209.1:p.Ser478=
NM_032034.3:c.1466C=	NP_114423.1:p.Ser489=
NM_032034.4:c.1466C=	NP_114423.1:p.Ser489=
NR_135000.1:n.1586C=
NR_174470.1:n.1991C=
NR_174471.1:n.1976C=
ENST00000380056.7:c.1466C=	ENSP00000369396.3:p.Ser489=
ENST00000380059.7:c.1547C=	ENSP00000369399.3:p.Ser516=
ENST00000470631.1:n.303C=
ENST00000474451.5:c.1361C=	ENSP00000476859.1:p.Ser454=
ENST00000539553.6:c.1418C=	ENSP00000441370.1:p.Ser473=
ENST00000644011.1:c.1349C=	ENSP00000496214.1:p.Ser450=
ENST00000644692.1:c.1289C=	ENSP00000493824.1:p.Ser430=
ENST00000647296.1:c.1304C=	ENSP00000495050.1:p.Ser435=
XM_005260856.3:c.1787C=	XP_005260913.1:p.Ser596=
XM_005260856.5:c.1787C=	XP_005260913.1:p.Ser596=
XM_005260857.1:c.1361C=	XP_005260914.1:p.Ser454=
XM_011529383.1:c.1385C=	XP_011527685.1:p.Ser462=
XM_011529383.3:c.1385C=	XP_011527685.1:p.Ser462=
XM_011529384.1:c.1361C=	XP_011527686.1:p.Ser454=
XM_011529385.1:c.1361C=	XP_011527687.1:p.Ser454=
XM_011529386.1:c.1901C=	XP_011527688.1:p.Ser634=
XM_017028093.1:c.1901C=	XP_016883582.1:p.Ser634=
XM_017028094.1:c.1361C=	XP_016883583.1:p.Ser454=
XM_017028096.1:c.1361C=	XP_016883585.1:p.Ser454=
XR_001754419.1:n.2011C=
XR_001754420.2:n.2011C=
XR_937167.1:n.1586C=