Canonical Allele Identifier: CA408084586

Gene: SLC4A11

Linked Data

• MyVariant Identifiers: chr20:g.3208912G>C (hg19) ; chr20:g.3228266G>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000642402.1:c.2551C>G MANE Select	ENSP00000493503.1:p.Pro851Ala
ENST00000644011.1:c.2482C>G	ENSP00000496214.1:p.Pro828Ala
ENST00000644692.1:c.2350C>G	ENSP00000493824.1:p.Pro784Ala
ENST00000647296.1:c.2437C>G	ENSP00000495050.1:p.Pro813Ala
ENST00000380056.7:c.2599C>G	ENSP00000369396.3:p.Pro867Ala
ENST00000380059.7:c.2680C>G	ENSP00000369399.3:p.Pro894Ala
ENST00000474451.5:c.*699C>G	ENSP00000476859.1:n.*699C>G
ENST00000539553.6:c.2551C>G	ENSP00000441370.1:p.Pro851Ala
NM_001174089.1:c.2551C>G	NP_001167560.1:p.Pro851Ala
NM_001174090.1:c.2680C>G	NP_001167561.1:p.Pro894Ala
NM_032034.3:c.2599C>G	NP_114423.1:p.Pro867Ala
XM_005260856.3:c.2920C>G	XP_005260913.1:p.Pro974Ala
XM_005260857.1:c.2494C>G	XP_005260914.1:p.Pro832Ala
XM_011529383.1:c.2518C>G	XP_011527685.1:p.Pro840Ala
XM_011529384.1:c.2494C>G	XP_011527686.1:p.Pro832Ala
XM_011529385.1:c.2494C>G	XP_011527687.1:p.Pro832Ala
XR_937167.1:n.2649C>G
NM_001363745.1:c.2437C>G	NP_001350674.1:p.Pro813Ala
NR_135000.1:n.2649C>G
XM_005260856.5:c.2920C>G	XP_005260913.1:p.Pro974Ala
XM_011529383.3:c.2518C>G	XP_011527685.1:p.Pro840Ala
XM_017028093.1:c.2914C>G	XP_016883582.1:p.Pro972Ala
XM_017028094.1:c.2494C>G	XP_016883583.1:p.Pro832Ala
XM_017028096.1:c.2494C>G	XP_016883585.1:p.Pro832Ala
XR_001754419.1:n.3094C>G
XR_001754420.2:n.3074C>G
NM_001174089.2:c.2551C>G MANE Select	NP_001167560.1:p.Pro851Ala
NM_001363745.2:c.2437C>G	NP_001350674.1:p.Pro813Ala
NM_001174090.2:c.2680C>G	NP_001167561.1:p.Pro894Ala
NM_032034.4:c.2599C>G	NP_114423.1:p.Pro867Ala
NM_001400277.1:c.2494C>G	NP_001387206.1:p.Pro832Ala
NM_001400278.1:c.2494C>G	NP_001387207.1:p.Pro832Ala
NM_001400279.1:c.2494C>G	NP_001387208.1:p.Pro832Ala
NM_001400280.1:c.2566C>G	NP_001387209.1:p.Pro856Ala
NR_174470.1:n.3074C>G
NR_174471.1:n.3059C>G