Canonical Allele Identifier: CA2346475115
Community Standard Title: NM_001174089.2(SLC4A11):c.2216G= (p.Arg739=)
Gene: SLC4A11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3228684C= , CM000682.2:g.3228684C= GRCh38
NC_000020.10:g.3209330C= , CM000682.1:g.3209330C= GRCh37
NC_000020.9:g.3157330C= NCBI36
NG_017072.1:g.15558G=
NG_012093.2:g.24818C=

Transcript Alleles

HGVS Amino-acid Change
NM_001174089.2:c.2216G= MANE Select NP_001167560.1:p.Arg739=
ENST00000642402.1:c.2216G= MANE Select ENSP00000493503.1:p.Arg739=
NM_001174089.1:c.2216G= NP_001167560.1:p.Arg739=
NM_001174090.1:c.2345G= NP_001167561.1:p.Arg782=
NM_001174090.2:c.2345G= NP_001167561.1:p.Arg782=
NM_001363745.1:c.2102G= NP_001350674.1:p.Arg701=
NM_001363745.2:c.2102G= NP_001350674.1:p.Arg701=
NM_001400277.1:c.2159G= NP_001387206.1:p.Arg720=
NM_001400278.1:c.2159G= NP_001387207.1:p.Arg720=
NM_001400279.1:c.2159G= NP_001387208.1:p.Arg720=
NM_001400280.1:c.2231G= NP_001387209.1:p.Arg744=
NM_032034.3:c.2264G= NP_114423.1:p.Arg755=
NM_032034.4:c.2264G= NP_114423.1:p.Arg755=
NR_135000.1:n.2314G=
NR_174470.1:n.2739G=
NR_174471.1:n.2724G=
ENST00000380056.7:c.2264G= ENSP00000369396.3:p.Arg755=
ENST00000380059.7:c.2345G= ENSP00000369399.3:p.Arg782=
ENST00000474451.5:c.*364G= ENSP00000476859.1:n.*364G=
ENST00000539553.6:c.2216G= ENSP00000441370.1:p.Arg739=
ENST00000644011.1:c.2147G= ENSP00000496214.1:p.Arg716=
ENST00000644692.1:c.2087G= ENSP00000493824.1:p.Arg696=
ENST00000647296.1:c.2102G= ENSP00000495050.1:p.Arg701=
XM_005260856.3:c.2585G= XP_005260913.1:p.Arg862=
XM_005260856.5:c.2585G= XP_005260913.1:p.Arg862=
XM_005260857.1:c.2159G= XP_005260914.1:p.Arg720=
XM_011529383.1:c.2183G= XP_011527685.1:p.Arg728=
XM_011529383.3:c.2183G= XP_011527685.1:p.Arg728=
XM_011529384.1:c.2159G= XP_011527686.1:p.Arg720=
XM_011529385.1:c.2159G= XP_011527687.1:p.Arg720=
XM_017028093.1:c.2579G= XP_016883582.1:p.Arg860=
XM_017028094.1:c.2159G= XP_016883583.1:p.Arg720=
XM_017028096.1:c.2159G= XP_016883585.1:p.Arg720=
XR_001754419.1:n.2759G=
XR_001754420.2:n.2739G=
XR_937167.1:n.2314G=