Canonical Allele Identifier: CA509558153
Gene: SLC4A11 HGNC NCBI

Linked Data

MyVariant Identifiers: chr20:g.3209498T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3228852T>C , CM000682.2:g.3228852T>C GRCh38
NC_000020.10:g.3209498T>C , CM000682.1:g.3209498T>C GRCh37
NC_000020.9:g.3157498T>C NCBI36
NG_017072.1:g.15390A>G
NG_012093.2:g.24986T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000642402.1:c.2178A>G MANE Select ENSP00000493503.1:p.Gly726=
ENST00000644011.1:c.2109A>G ENSP00000496214.1:p.Gly703=
ENST00000644692.1:c.2049A>G ENSP00000493824.1:p.Gly683=
ENST00000647296.1:c.2064A>G ENSP00000495050.1:p.Gly688=
ENST00000380056.7:c.2226A>G ENSP00000369396.3:p.Gly742=
ENST00000380059.7:c.2307A>G ENSP00000369399.3:p.Gly769=
ENST00000474451.5:c.*326A>G ENSP00000476859.1:n.*326A>G
ENST00000539553.6:c.2178A>G ENSP00000441370.1:p.Gly726=
NM_001174089.1:c.2178A>G NP_001167560.1:p.Gly726=
NM_001174090.1:c.2307A>G NP_001167561.1:p.Gly769=
NM_032034.3:c.2226A>G NP_114423.1:p.Gly742=
XM_005260856.3:c.2547A>G XP_005260913.1:p.Gly849=
XM_005260857.1:c.2121A>G XP_005260914.1:p.Gly707=
XM_011529383.1:c.2145A>G XP_011527685.1:p.Gly715=
XM_011529384.1:c.2121A>G XP_011527686.1:p.Gly707=
XM_011529385.1:c.2121A>G XP_011527687.1:p.Gly707=
XR_937167.1:n.2276A>G
NM_001363745.1:c.2064A>G NP_001350674.1:p.Gly688=
NR_135000.1:n.2276A>G
XM_005260856.5:c.2547A>G XP_005260913.1:p.Gly849=
XM_011529383.3:c.2145A>G XP_011527685.1:p.Gly715=
XM_017028093.1:c.2541A>G XP_016883582.1:p.Gly847=
XM_017028094.1:c.2121A>G XP_016883583.1:p.Gly707=
XM_017028096.1:c.2121A>G XP_016883585.1:p.Gly707=
XR_001754419.1:n.2721A>G
XR_001754420.2:n.2701A>G
NM_001174089.2:c.2178A>G MANE Select NP_001167560.1:p.Gly726=
NM_001363745.2:c.2064A>G NP_001350674.1:p.Gly688=
NM_001174090.2:c.2307A>G NP_001167561.1:p.Gly769=
NM_032034.4:c.2226A>G NP_114423.1:p.Gly742=
NM_001400277.1:c.2121A>G NP_001387206.1:p.Gly707=
NM_001400278.1:c.2121A>G NP_001387207.1:p.Gly707=
NM_001400279.1:c.2121A>G NP_001387208.1:p.Gly707=
NM_001400280.1:c.2193A>G NP_001387209.1:p.Gly731=
NR_174470.1:n.2701A>G
NR_174471.1:n.2686A>G