Canonical Allele Identifier: CA509559212
Gene: SLC4A11 HGNC NCBI

Linked Data

MyVariant Identifiers: chr20:g.3214910T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3234264T>A , CM000682.2:g.3234264T>A GRCh38
NC_000020.10:g.3214910T>A , CM000682.1:g.3214910T>A GRCh37
NC_000020.9:g.3162910T>A NCBI36
NG_017072.1:g.9978A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000642402.1:c.342A>T MANE Select ENSP00000493503.1:p.Leu114=
ENST00000644011.1:c.292-19A>T ENSP00000496214.1:n.292-19A>T
ENST00000644692.1:c.285A>T ENSP00000493824.1:p.Leu95=
ENST00000647296.1:c.342A>T ENSP00000495050.1:p.Leu114=
ENST00000380056.7:c.390A>T ENSP00000369396.3:p.Leu130=
ENST00000380059.7:c.471A>T ENSP00000369399.3:p.Leu157=
ENST00000437836.2:c.285A>T ENSP00000404271.2:p.Leu95=
ENST00000474451.5:c.285A>T ENSP00000476859.1:p.Leu95=
ENST00000539553.6:c.342A>T ENSP00000441370.1:p.Leu114=
NM_001174089.1:c.342A>T NP_001167560.1:p.Leu114=
NM_001174090.1:c.471A>T NP_001167561.1:p.Leu157=
NM_032034.3:c.390A>T NP_114423.1:p.Leu130=
XM_005260856.3:c.825A>T XP_005260913.1:p.Leu275=
XM_005260857.1:c.285A>T XP_005260914.1:p.Leu95=
XM_011529383.1:c.309A>T XP_011527685.1:p.Leu103=
XM_011529384.1:c.285A>T XP_011527686.1:p.Leu95=
XM_011529385.1:c.285A>T XP_011527687.1:p.Leu95=
XM_011529386.1:c.825A>T XP_011527688.1:p.Leu275=
XR_937167.1:n.510A>T
NM_001363745.1:c.342A>T NP_001350674.1:p.Leu114=
NR_135000.1:n.510A>T
XM_005260856.5:c.825A>T XP_005260913.1:p.Leu275=
XM_011529383.3:c.309A>T XP_011527685.1:p.Leu103=
XM_017028093.1:c.825A>T XP_016883582.1:p.Leu275=
XM_017028094.1:c.285A>T XP_016883583.1:p.Leu95=
XM_017028096.1:c.285A>T XP_016883585.1:p.Leu95=
XM_017028097.1:c.825A>T XP_016883586.1:p.Leu275=
XR_001754419.1:n.935A>T
XR_001754420.2:n.935A>T
NM_001174089.2:c.342A>T MANE Select NP_001167560.1:p.Leu114=
NM_001363745.2:c.342A>T NP_001350674.1:p.Leu114=
NM_001174090.2:c.471A>T NP_001167561.1:p.Leu157=
NM_032034.4:c.390A>T NP_114423.1:p.Leu130=
NM_001400277.1:c.285A>T NP_001387206.1:p.Leu95=
NM_001400278.1:c.285A>T NP_001387207.1:p.Leu95=
NM_001400279.1:c.285A>T NP_001387208.1:p.Leu95=
NM_001400280.1:c.471A>T NP_001387209.1:p.Leu157=
NR_174470.1:n.900A>T
NR_174471.1:n.900A>T