Canonical Allele Identifier: CA2346475254

Gene: SLC4A11

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3228957G= , CM000682.2:g.3228957G=	GRCh38
NC_000020.10:g.3209603G= , CM000682.1:g.3209603G=	GRCh37
NC_000020.9:g.3157603G=	NCBI36
NG_017072.1:g.15285C=
NG_012093.2:g.25091G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000642402.1:c.2073C= MANE Select	ENSP00000493503.1:p.Asn691=
ENST00000644011.1:c.2004C=	ENSP00000496214.1:p.Asn668=
ENST00000644692.1:c.1944C=	ENSP00000493824.1:p.Asn648=
ENST00000647296.1:c.1959C=	ENSP00000495050.1:p.Asn653=
ENST00000380056.7:c.2121C=	ENSP00000369396.3:p.Asn707=
ENST00000380059.7:c.2202C=	ENSP00000369399.3:p.Asn734=
ENST00000474451.5:c.*221C=	ENSP00000476859.1:n.*221C=
ENST00000488544.1:n.666C=
ENST00000539553.6:c.2073C=	ENSP00000441370.1:p.Asn691=
NM_001174089.1:c.2073C=	NP_001167560.1:p.Asn691=
NM_001174090.1:c.2202C=	NP_001167561.1:p.Asn734=
NM_032034.3:c.2121C=	NP_114423.1:p.Asn707=
XM_005260856.3:c.2442C=	XP_005260913.1:p.Asn814=
XM_005260857.1:c.2016C=	XP_005260914.1:p.Asn672=
XM_011529383.1:c.2040C=	XP_011527685.1:p.Asn680=
XM_011529384.1:c.2016C=	XP_011527686.1:p.Asn672=
XM_011529385.1:c.2016C=	XP_011527687.1:p.Asn672=
XR_937167.1:n.2171C=
NM_001363745.1:c.1959C=	NP_001350674.1:p.Asn653=
NR_135000.1:n.2171C=
XM_005260856.5:c.2442C=	XP_005260913.1:p.Asn814=
XM_011529383.3:c.2040C=	XP_011527685.1:p.Asn680=
XM_017028093.1:c.2436C=	XP_016883582.1:p.Asn812=
XM_017028094.1:c.2016C=	XP_016883583.1:p.Asn672=
XM_017028096.1:c.2016C=	XP_016883585.1:p.Asn672=
XR_001754419.1:n.2616C=
XR_001754420.2:n.2596C=
NM_001174089.2:c.2073C= MANE Select	NP_001167560.1:p.Asn691=
NM_001363745.2:c.1959C=	NP_001350674.1:p.Asn653=
NM_001174090.2:c.2202C=	NP_001167561.1:p.Asn734=
NM_032034.4:c.2121C=	NP_114423.1:p.Asn707=
NM_001400277.1:c.2016C=	NP_001387206.1:p.Asn672=
NM_001400278.1:c.2016C=	NP_001387207.1:p.Asn672=
NM_001400279.1:c.2016C=	NP_001387208.1:p.Asn672=
NM_001400280.1:c.2088C=	NP_001387209.1:p.Asn696=
NR_174470.1:n.2596C=
NR_174471.1:n.2581C=