Canonical Allele Identifier: CA2346474913

Gene: SLC4A11

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3228266G= , CM000682.2:g.3228266G=	GRCh38
NC_000020.10:g.3208912G= , CM000682.1:g.3208912G=	GRCh37
NC_000020.9:g.3156912G=	NCBI36
NG_017072.1:g.15976C=
NG_012093.2:g.24400G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000642402.1:c.2551C= MANE Select	ENSP00000493503.1:p.Pro851=
ENST00000644011.1:c.2482C=	ENSP00000496214.1:p.Pro828=
ENST00000644692.1:c.2350C=	ENSP00000493824.1:p.Pro784=
ENST00000647296.1:c.2437C=	ENSP00000495050.1:p.Pro813=
ENST00000380056.7:c.2599C=	ENSP00000369396.3:p.Pro867=
ENST00000380059.7:c.2680C=	ENSP00000369399.3:p.Pro894=
ENST00000474451.5:c.*699C=	ENSP00000476859.1:n.*699C=
ENST00000539553.6:c.2551C=	ENSP00000441370.1:p.Pro851=
NM_001174089.1:c.2551C=	NP_001167560.1:p.Pro851=
NM_001174090.1:c.2680C=	NP_001167561.1:p.Pro894=
NM_032034.3:c.2599C=	NP_114423.1:p.Pro867=
XM_005260856.3:c.2920C=	XP_005260913.1:p.Pro974=
XM_005260857.1:c.2494C=	XP_005260914.1:p.Pro832=
XM_011529383.1:c.2518C=	XP_011527685.1:p.Pro840=
XM_011529384.1:c.2494C=	XP_011527686.1:p.Pro832=
XM_011529385.1:c.2494C=	XP_011527687.1:p.Pro832=
XR_937167.1:n.2649C=
NM_001363745.1:c.2437C=	NP_001350674.1:p.Pro813=
NR_135000.1:n.2649C=
XM_005260856.5:c.2920C=	XP_005260913.1:p.Pro974=
XM_011529383.3:c.2518C=	XP_011527685.1:p.Pro840=
XM_017028093.1:c.2914C=	XP_016883582.1:p.Pro972=
XM_017028094.1:c.2494C=	XP_016883583.1:p.Pro832=
XM_017028096.1:c.2494C=	XP_016883585.1:p.Pro832=
XR_001754419.1:n.3094C=
XR_001754420.2:n.3074C=
NM_001174089.2:c.2551C= MANE Select	NP_001167560.1:p.Pro851=
NM_001363745.2:c.2437C=	NP_001350674.1:p.Pro813=
NM_001174090.2:c.2680C=	NP_001167561.1:p.Pro894=
NM_032034.4:c.2599C=	NP_114423.1:p.Pro867=
NM_001400277.1:c.2494C=	NP_001387206.1:p.Pro832=
NM_001400278.1:c.2494C=	NP_001387207.1:p.Pro832=
NM_001400279.1:c.2494C=	NP_001387208.1:p.Pro832=
NM_001400280.1:c.2566C=	NP_001387209.1:p.Pro856=
NR_174470.1:n.3074C=
NR_174471.1:n.3059C=