Canonical Allele Identifier: CA9741986

Gene: SLC4A11

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3230969C>G , CM000682.2:g.3230969C>G	GRCh38
NC_000020.10:g.3211615C>G , CM000682.1:g.3211615C>G	GRCh37
NC_000020.9:g.3159615C>G	NCBI36
NG_017072.1:g.13273G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642402.1:c.1132G>C MANE Select	ENSP00000493503.1:p.Gly378Arg
ENST00000644011.1:c.1063G>C	ENSP00000496214.1:p.Gly355Arg
ENST00000644692.1:c.1003G>C	ENSP00000493824.1:p.Gly335Arg
ENST00000647296.1:c.1132G>C	ENSP00000495050.1:p.Gly378Arg
ENST00000380056.7:c.1180G>C	ENSP00000369396.3:p.Gly394Arg
ENST00000380059.7:c.1261G>C	ENSP00000369399.3:p.Gly421Arg
ENST00000474451.5:c.1075G>C	ENSP00000476859.1:p.Gly359Arg
ENST00000539553.6:c.1132G>C	ENSP00000441370.1:p.Gly378Arg
NM_001174089.1:c.1132G>C	NP_001167560.1:p.Gly378Arg
NM_001174090.1:c.1261G>C	NP_001167561.1:p.Gly421Arg
NM_032034.3:c.1180G>C	NP_114423.1:p.Gly394Arg
XM_005260856.3:c.1615G>C	XP_005260913.1:p.Gly539Arg
XM_005260857.1:c.1075G>C	XP_005260914.1:p.Gly359Arg
XM_011529383.1:c.1099G>C	XP_011527685.1:p.Gly367Arg
XM_011529384.1:c.1075G>C	XP_011527686.1:p.Gly359Arg
XM_011529385.1:c.1075G>C	XP_011527687.1:p.Gly359Arg
XM_011529386.1:c.1615G>C	XP_011527688.1:p.Gly539Arg
XR_937167.1:n.1300G>C
NM_001363745.1:c.1132G>C	NP_001350674.1:p.Gly378Arg
NR_135000.1:n.1300G>C
XM_005260856.5:c.1615G>C	XP_005260913.1:p.Gly539Arg
XM_011529383.3:c.1099G>C	XP_011527685.1:p.Gly367Arg
XM_017028093.1:c.1615G>C	XP_016883582.1:p.Gly539Arg
XM_017028094.1:c.1075G>C	XP_016883583.1:p.Gly359Arg
XM_017028096.1:c.1075G>C	XP_016883585.1:p.Gly359Arg
XM_017028097.1:c.1615G>C	XP_016883586.1:p.Gly539Arg
XR_001754419.1:n.1725G>C
XR_001754420.2:n.1725G>C
NM_001174089.2:c.1132G>C MANE Select	NP_001167560.1:p.Gly378Arg
NM_001363745.2:c.1132G>C	NP_001350674.1:p.Gly378Arg
NM_001174090.2:c.1261G>C	NP_001167561.1:p.Gly421Arg
NM_032034.4:c.1180G>C	NP_114423.1:p.Gly394Arg
NM_001400277.1:c.1075G>C	NP_001387206.1:p.Gly359Arg
NM_001400278.1:c.1075G>C	NP_001387207.1:p.Gly359Arg
NM_001400279.1:c.1075G>C	NP_001387208.1:p.Gly359Arg
NM_001400280.1:c.1261G>C	NP_001387209.1:p.Gly421Arg
NR_174470.1:n.1690G>C
NR_174471.1:n.1690G>C