Canonical Allele Identifier: CA408093790

Gene: SLC4A11

Linked Data

• dbSNP Id: rs1177833115
• gnomAD v3: 20-3234194-T-C
• gnomAD v4: 20-3234194-T-C
• MyVariant Identifiers: chr20:g.3214840T>C (hg19) ; chr20:g.3234194T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3234194T>C , CM000682.2:g.3234194T>C	GRCh38
NC_000020.10:g.3214840T>C , CM000682.1:g.3214840T>C	GRCh37
NC_000020.9:g.3162840T>C	NCBI36
NG_017072.1:g.10048A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642402.1:c.412A>G MANE Select	ENSP00000493503.1:p.Thr138Ala
ENST00000644011.1:c.343A>G	ENSP00000496214.1:p.Thr115Ala
ENST00000644692.1:c.355A>G	ENSP00000493824.1:p.Thr119Ala
ENST00000647296.1:c.412A>G	ENSP00000495050.1:p.Thr138Ala
ENST00000380056.7:c.460A>G	ENSP00000369396.3:p.Thr154Ala
ENST00000380059.7:c.541A>G	ENSP00000369399.3:p.Thr181Ala
ENST00000474451.5:c.355A>G	ENSP00000476859.1:p.Thr119Ala
ENST00000539553.6:c.412A>G	ENSP00000441370.1:p.Thr138Ala
NM_001174089.1:c.412A>G	NP_001167560.1:p.Thr138Ala
NM_001174090.1:c.541A>G	NP_001167561.1:p.Thr181Ala
NM_032034.3:c.460A>G	NP_114423.1:p.Thr154Ala
XM_005260856.3:c.895A>G	XP_005260913.1:p.Thr299Ala
XM_005260857.1:c.355A>G	XP_005260914.1:p.Thr119Ala
XM_011529383.1:c.379A>G	XP_011527685.1:p.Thr127Ala
XM_011529384.1:c.355A>G	XP_011527686.1:p.Thr119Ala
XM_011529385.1:c.355A>G	XP_011527687.1:p.Thr119Ala
XM_011529386.1:c.895A>G	XP_011527688.1:p.Thr299Ala
XR_937167.1:n.580A>G
NM_001363745.1:c.412A>G	NP_001350674.1:p.Thr138Ala
NR_135000.1:n.580A>G
XM_005260856.5:c.895A>G	XP_005260913.1:p.Thr299Ala
XM_011529383.3:c.379A>G	XP_011527685.1:p.Thr127Ala
XM_017028093.1:c.895A>G	XP_016883582.1:p.Thr299Ala
XM_017028094.1:c.355A>G	XP_016883583.1:p.Thr119Ala
XM_017028096.1:c.355A>G	XP_016883585.1:p.Thr119Ala
XM_017028097.1:c.895A>G	XP_016883586.1:p.Thr299Ala
XR_001754419.1:n.1005A>G
XR_001754420.2:n.1005A>G
NM_001174089.2:c.412A>G MANE Select	NP_001167560.1:p.Thr138Ala
NM_001363745.2:c.412A>G	NP_001350674.1:p.Thr138Ala
NM_001174090.2:c.541A>G	NP_001167561.1:p.Thr181Ala
NM_032034.4:c.460A>G	NP_114423.1:p.Thr154Ala
NM_001400277.1:c.355A>G	NP_001387206.1:p.Thr119Ala
NM_001400278.1:c.355A>G	NP_001387207.1:p.Thr119Ala
NM_001400279.1:c.355A>G	NP_001387208.1:p.Thr119Ala
NM_001400280.1:c.541A>G	NP_001387209.1:p.Thr181Ala
NR_174470.1:n.970A>G
NR_174471.1:n.970A>G