Canonical Allele Identifier: CA408088511

Gene: SLC4A11

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
NM_001174089.2:c.1418C>A MANE Select	NP_001167560.1:p.Ser473Ter
ENST00000642402.1:c.1418C>A MANE Select	ENSP00000493503.1:p.Ser473Ter
NM_001174089.1:c.1418C>A	NP_001167560.1:p.Ser473Ter
NM_001174090.1:c.1547C>A	NP_001167561.1:p.Ser516Ter
NM_001174090.2:c.1547C>A	NP_001167561.1:p.Ser516Ter
NM_001363745.1:c.1304C>A	NP_001350674.1:p.Ser435Ter
NM_001363745.2:c.1304C>A	NP_001350674.1:p.Ser435Ter
NM_001400277.1:c.1361C>A	NP_001387206.1:p.Ser454Ter
NM_001400278.1:c.1361C>A	NP_001387207.1:p.Ser454Ter
NM_001400279.1:c.1361C>A	NP_001387208.1:p.Ser454Ter
NM_001400280.1:c.1433C>A	NP_001387209.1:p.Ser478Ter
NM_032034.3:c.1466C>A	NP_114423.1:p.Ser489Ter
NM_032034.4:c.1466C>A	NP_114423.1:p.Ser489Ter
NR_135000.1:n.1586C>A
NR_174470.1:n.1991C>A
NR_174471.1:n.1976C>A
ENST00000380056.7:c.1466C>A	ENSP00000369396.3:p.Ser489Ter
ENST00000380059.7:c.1547C>A	ENSP00000369399.3:p.Ser516Ter
ENST00000470631.1:n.303C>A
ENST00000474451.5:c.1361C>A	ENSP00000476859.1:p.Ser454Ter
ENST00000539553.6:c.1418C>A	ENSP00000441370.1:p.Ser473Ter
ENST00000644011.1:c.1349C>A	ENSP00000496214.1:p.Ser450Ter
ENST00000644692.1:c.1289C>A	ENSP00000493824.1:p.Ser430Ter
ENST00000647296.1:c.1304C>A	ENSP00000495050.1:p.Ser435Ter
XM_005260856.3:c.1787C>A	XP_005260913.1:p.Ser596Ter
XM_005260856.5:c.1787C>A	XP_005260913.1:p.Ser596Ter
XM_005260857.1:c.1361C>A	XP_005260914.1:p.Ser454Ter
XM_011529383.1:c.1385C>A	XP_011527685.1:p.Ser462Ter
XM_011529383.3:c.1385C>A	XP_011527685.1:p.Ser462Ter
XM_011529384.1:c.1361C>A	XP_011527686.1:p.Ser454Ter
XM_011529385.1:c.1361C>A	XP_011527687.1:p.Ser454Ter
XM_011529386.1:c.1901C>A	XP_011527688.1:p.Ser634Ter
XM_017028093.1:c.1901C>A	XP_016883582.1:p.Ser634Ter
XM_017028094.1:c.1361C>A	XP_016883583.1:p.Ser454Ter
XM_017028096.1:c.1361C>A	XP_016883585.1:p.Ser454Ter
XR_001754419.1:n.2011C>A
XR_001754420.2:n.2011C>A
XR_937167.1:n.1586C>A