Canonical Allele Identifier: CA408084881
Community Standard Title: NM_001174089.2(SLC4A11):c.2496G>C (p.Met832Ile)
Gene: SLC4A11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3228321C>G , CM000682.2:g.3228321C>G GRCh38
NC_000020.10:g.3208967C>G , CM000682.1:g.3208967C>G GRCh37
NC_000020.9:g.3156967C>G NCBI36
NG_017072.1:g.15921G>C
NG_012093.2:g.24455C>G

Transcript Alleles

HGVS Amino-acid Change
NM_001174089.2:c.2496G>C MANE Select NP_001167560.1:p.Met832Ile
ENST00000642402.1:c.2496G>C MANE Select ENSP00000493503.1:p.Met832Ile
NM_001174089.1:c.2496G>C NP_001167560.1:p.Met832Ile
NM_001174090.1:c.2625G>C NP_001167561.1:p.Met875Ile
NM_001174090.2:c.2625G>C NP_001167561.1:p.Met875Ile
NM_001363745.1:c.2382G>C NP_001350674.1:p.Met794Ile
NM_001363745.2:c.2382G>C NP_001350674.1:p.Met794Ile
NM_001400277.1:c.2439G>C NP_001387206.1:p.Met813Ile
NM_001400278.1:c.2439G>C NP_001387207.1:p.Met813Ile
NM_001400279.1:c.2439G>C NP_001387208.1:p.Met813Ile
NM_001400280.1:c.2511G>C NP_001387209.1:p.Met837Ile
NM_032034.3:c.2544G>C NP_114423.1:p.Met848Ile
NM_032034.4:c.2544G>C NP_114423.1:p.Met848Ile
NR_135000.1:n.2594G>C
NR_174470.1:n.3019G>C
NR_174471.1:n.3004G>C
ENST00000380056.7:c.2544G>C ENSP00000369396.3:p.Met848Ile
ENST00000380059.7:c.2625G>C ENSP00000369399.3:p.Met875Ile
ENST00000474451.5:c.*644G>C ENSP00000476859.1:n.*644G>C
ENST00000539553.6:c.2496G>C ENSP00000441370.1:p.Met832Ile
ENST00000644011.1:c.2427G>C ENSP00000496214.1:p.Met809Ile
ENST00000644692.1:c.2295G>C ENSP00000493824.1:p.Met765Ile
ENST00000647296.1:c.2382G>C ENSP00000495050.1:p.Met794Ile
XM_005260856.3:c.2865G>C XP_005260913.1:p.Met955Ile
XM_005260856.5:c.2865G>C XP_005260913.1:p.Met955Ile
XM_005260857.1:c.2439G>C XP_005260914.1:p.Met813Ile
XM_011529383.1:c.2463G>C XP_011527685.1:p.Met821Ile
XM_011529383.3:c.2463G>C XP_011527685.1:p.Met821Ile
XM_011529384.1:c.2439G>C XP_011527686.1:p.Met813Ile
XM_011529385.1:c.2439G>C XP_011527687.1:p.Met813Ile
XM_017028093.1:c.2859G>C XP_016883582.1:p.Met953Ile
XM_017028094.1:c.2439G>C XP_016883583.1:p.Met813Ile
XM_017028096.1:c.2439G>C XP_016883585.1:p.Met813Ile
XR_001754419.1:n.3039G>C
XR_001754420.2:n.3019G>C
XR_937167.1:n.2594G>C