Canonical Allele Identifier: CA2346475239

Gene: SLC4A11

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3228918G= , CM000682.2:g.3228918G=	GRCh38
NC_000020.10:g.3209564G= , CM000682.1:g.3209564G=	GRCh37
NC_000020.9:g.3157564G=	NCBI36
NG_017072.1:g.15324C=
NG_012093.2:g.25052G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000642402.1:c.2112C= MANE Select	ENSP00000493503.1:p.Ala704=
ENST00000644011.1:c.2043C=	ENSP00000496214.1:p.Ala681=
ENST00000644692.1:c.1983C=	ENSP00000493824.1:p.Ala661=
ENST00000647296.1:c.1998C=	ENSP00000495050.1:p.Ala666=
ENST00000380056.7:c.2160C=	ENSP00000369396.3:p.Ala720=
ENST00000380059.7:c.2241C=	ENSP00000369399.3:p.Ala747=
ENST00000474451.5:c.*260C=	ENSP00000476859.1:n.*260C=
ENST00000539553.6:c.2112C=	ENSP00000441370.1:p.Ala704=
NM_001174089.1:c.2112C=	NP_001167560.1:p.Ala704=
NM_001174090.1:c.2241C=	NP_001167561.1:p.Ala747=
NM_032034.3:c.2160C=	NP_114423.1:p.Ala720=
XM_005260856.3:c.2481C=	XP_005260913.1:p.Ala827=
XM_005260857.1:c.2055C=	XP_005260914.1:p.Ala685=
XM_011529383.1:c.2079C=	XP_011527685.1:p.Ala693=
XM_011529384.1:c.2055C=	XP_011527686.1:p.Ala685=
XM_011529385.1:c.2055C=	XP_011527687.1:p.Ala685=
XR_937167.1:n.2210C=
NM_001363745.1:c.1998C=	NP_001350674.1:p.Ala666=
NR_135000.1:n.2210C=
XM_005260856.5:c.2481C=	XP_005260913.1:p.Ala827=
XM_011529383.3:c.2079C=	XP_011527685.1:p.Ala693=
XM_017028093.1:c.2475C=	XP_016883582.1:p.Ala825=
XM_017028094.1:c.2055C=	XP_016883583.1:p.Ala685=
XM_017028096.1:c.2055C=	XP_016883585.1:p.Ala685=
XR_001754419.1:n.2655C=
XR_001754420.2:n.2635C=
NM_001174089.2:c.2112C= MANE Select	NP_001167560.1:p.Ala704=
NM_001363745.2:c.1998C=	NP_001350674.1:p.Ala666=
NM_001174090.2:c.2241C=	NP_001167561.1:p.Ala747=
NM_032034.4:c.2160C=	NP_114423.1:p.Ala720=
NM_001400277.1:c.2055C=	NP_001387206.1:p.Ala685=
NM_001400278.1:c.2055C=	NP_001387207.1:p.Ala685=
NM_001400279.1:c.2055C=	NP_001387208.1:p.Ala685=
NM_001400280.1:c.2127C=	NP_001387209.1:p.Ala709=
NR_174470.1:n.2635C=
NR_174471.1:n.2620C=