Canonical Allele Identifier: CA9741771

Gene: SLC4A11

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3229632G>A , CM000682.2:g.3229632G>A	GRCh38
NC_000020.10:g.3210278G>A , CM000682.1:g.3210278G>A	GRCh37
NC_000020.9:g.3158278G>A	NCBI36
NG_017072.1:g.14610C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001174089.2:c.1634C>T MANE Select	NP_001167560.1:p.Thr545Met
ENST00000642402.1:c.1634C>T MANE Select	ENSP00000493503.1:p.Thr545Met
NM_001174089.1:c.1634C>T	NP_001167560.1:p.Thr545Met
NM_001174090.1:c.1763C>T	NP_001167561.1:p.Thr588Met
NM_001174090.2:c.1763C>T	NP_001167561.1:p.Thr588Met
NM_001363745.1:c.1520C>T	NP_001350674.1:p.Thr507Met
NM_001363745.2:c.1520C>T	NP_001350674.1:p.Thr507Met
NM_001400277.1:c.1577C>T	NP_001387206.1:p.Thr526Met
NM_001400278.1:c.1577C>T	NP_001387207.1:p.Thr526Met
NM_001400279.1:c.1577C>T	NP_001387208.1:p.Thr526Met
NM_001400280.1:c.1649C>T	NP_001387209.1:p.Thr550Met
NM_032034.3:c.1682C>T	NP_114423.1:p.Thr561Met
NM_032034.4:c.1682C>T	NP_114423.1:p.Thr561Met
NR_135000.1:n.1732C>T
NR_174470.1:n.2207C>T
NR_174471.1:n.2192C>T
ENST00000380056.7:c.1682C>T	ENSP00000369396.3:p.Thr561Met
ENST00000380059.7:c.1763C>T	ENSP00000369399.3:p.Thr588Met
ENST00000474451.5:c.1507C>T	ENSP00000476859.1:p.Arg503Trp
ENST00000488544.1:n.145C>T
ENST00000539553.6:c.1634C>T	ENSP00000441370.1:p.Thr545Met
ENST00000644011.1:c.1565C>T	ENSP00000496214.1:p.Thr522Met
ENST00000644692.1:c.1505C>T	ENSP00000493824.1:p.Thr502Met
ENST00000647296.1:c.1520C>T	ENSP00000495050.1:p.Thr507Met
XM_005260856.3:c.2003C>T	XP_005260913.1:p.Thr668Met
XM_005260856.5:c.2003C>T	XP_005260913.1:p.Thr668Met
XM_005260857.1:c.1577C>T	XP_005260914.1:p.Thr526Met
XM_011529383.1:c.1601C>T	XP_011527685.1:p.Thr534Met
XM_011529383.3:c.1601C>T	XP_011527685.1:p.Thr534Met
XM_011529384.1:c.1577C>T	XP_011527686.1:p.Thr526Met
XM_011529385.1:c.1577C>T	XP_011527687.1:p.Thr526Met
XM_011529386.1:c.2047C>T	XP_011527688.1:p.Arg683Trp
XM_017028093.1:c.2047C>T	XP_016883582.1:p.Arg683Trp
XM_017028094.1:c.1577C>T	XP_016883583.1:p.Thr526Met
XM_017028096.1:c.1577C>T	XP_016883585.1:p.Thr526Met
XR_001754419.1:n.2227C>T
XR_001754420.2:n.2157C>T
XR_937167.1:n.1732C>T