Canonical Allele Identifier: CA2346477836

Gene: SLC4A11

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3233937A= , CM000682.2:g.3233937A=	GRCh38
NC_000020.10:g.3214583A= , CM000682.1:g.3214583A=	GRCh37
NC_000020.9:g.3162583A=	NCBI36
NG_017072.1:g.10305T=

Transcript Alleles

HGVS	Amino-acid Change
NM_001174089.2:c.589T= MANE Select	NP_001167560.1:p.Ser197=
ENST00000642402.1:c.589T= MANE Select	ENSP00000493503.1:p.Ser197=
NM_001174089.1:c.589T=	NP_001167560.1:p.Ser197=
NM_001174090.1:c.718T=	NP_001167561.1:p.Ser240=
NM_001174090.2:c.718T=	NP_001167561.1:p.Ser240=
NM_001363745.1:c.589T=	NP_001350674.1:p.Ser197=
NM_001363745.2:c.589T=	NP_001350674.1:p.Ser197=
NM_001400277.1:c.532T=	NP_001387206.1:p.Ser178=
NM_001400278.1:c.532T=	NP_001387207.1:p.Ser178=
NM_001400279.1:c.532T=	NP_001387208.1:p.Ser178=
NM_001400280.1:c.718T=	NP_001387209.1:p.Ser240=
NM_032034.3:c.637T=	NP_114423.1:p.Ser213=
NM_032034.4:c.637T=	NP_114423.1:p.Ser213=
NR_135000.1:n.757T=
NR_174470.1:n.1147T=
NR_174471.1:n.1147T=
ENST00000380056.7:c.637T=	ENSP00000369396.3:p.Ser213=
ENST00000380059.7:c.718T=	ENSP00000369399.3:p.Ser240=
ENST00000474451.5:c.532T=	ENSP00000476859.1:p.Ser178=
ENST00000539553.6:c.589T=	ENSP00000441370.1:p.Ser197=
ENST00000644011.1:c.520T=	ENSP00000496214.1:p.Ser174=
ENST00000644692.1:c.532T=	ENSP00000493824.1:p.Ser178=
ENST00000647296.1:c.589T=	ENSP00000495050.1:p.Ser197=
XM_005260856.3:c.1072T=	XP_005260913.1:p.Ser358=
XM_005260856.5:c.1072T=	XP_005260913.1:p.Ser358=
XM_005260857.1:c.532T=	XP_005260914.1:p.Ser178=
XM_011529383.1:c.556T=	XP_011527685.1:p.Ser186=
XM_011529383.3:c.556T=	XP_011527685.1:p.Ser186=
XM_011529384.1:c.532T=	XP_011527686.1:p.Ser178=
XM_011529385.1:c.532T=	XP_011527687.1:p.Ser178=
XM_011529386.1:c.1072T=	XP_011527688.1:p.Ser358=
XM_017028093.1:c.1072T=	XP_016883582.1:p.Ser358=
XM_017028094.1:c.532T=	XP_016883583.1:p.Ser178=
XM_017028096.1:c.532T=	XP_016883585.1:p.Ser178=
XM_017028097.1:c.1072T=	XP_016883586.1:p.Ser358=
XR_001754419.1:n.1182T=
XR_001754420.2:n.1182T=
XR_937167.1:n.757T=