Canonical Allele Identifier: CA509558299

Gene: SLC4A11

Linked Data

• MyVariant Identifiers: chr20:g.3209600T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3228954T>A , CM000682.2:g.3228954T>A	GRCh38
NC_000020.10:g.3209600T>A , CM000682.1:g.3209600T>A	GRCh37
NC_000020.9:g.3157600T>A	NCBI36
NG_017072.1:g.15288A>T
NG_012093.2:g.25088T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000642402.1:c.2076A>T MANE Select	ENSP00000493503.1:p.Thr692=
ENST00000644011.1:c.2007A>T	ENSP00000496214.1:p.Thr669=
ENST00000644692.1:c.1947A>T	ENSP00000493824.1:p.Thr649=
ENST00000647296.1:c.1962A>T	ENSP00000495050.1:p.Thr654=
ENST00000380056.7:c.2124A>T	ENSP00000369396.3:p.Thr708=
ENST00000380059.7:c.2205A>T	ENSP00000369399.3:p.Thr735=
ENST00000474451.5:c.*224A>T	ENSP00000476859.1:n.*224A>T
ENST00000488544.1:n.669A>T
ENST00000539553.6:c.2076A>T	ENSP00000441370.1:p.Thr692=
NM_001174089.1:c.2076A>T	NP_001167560.1:p.Thr692=
NM_001174090.1:c.2205A>T	NP_001167561.1:p.Thr735=
NM_032034.3:c.2124A>T	NP_114423.1:p.Thr708=
XM_005260856.3:c.2445A>T	XP_005260913.1:p.Thr815=
XM_005260857.1:c.2019A>T	XP_005260914.1:p.Thr673=
XM_011529383.1:c.2043A>T	XP_011527685.1:p.Thr681=
XM_011529384.1:c.2019A>T	XP_011527686.1:p.Thr673=
XM_011529385.1:c.2019A>T	XP_011527687.1:p.Thr673=
XR_937167.1:n.2174A>T
NM_001363745.1:c.1962A>T	NP_001350674.1:p.Thr654=
NR_135000.1:n.2174A>T
XM_005260856.5:c.2445A>T	XP_005260913.1:p.Thr815=
XM_011529383.3:c.2043A>T	XP_011527685.1:p.Thr681=
XM_017028093.1:c.2439A>T	XP_016883582.1:p.Thr813=
XM_017028094.1:c.2019A>T	XP_016883583.1:p.Thr673=
XM_017028096.1:c.2019A>T	XP_016883585.1:p.Thr673=
XR_001754419.1:n.2619A>T
XR_001754420.2:n.2599A>T
NM_001174089.2:c.2076A>T MANE Select	NP_001167560.1:p.Thr692=
NM_001363745.2:c.1962A>T	NP_001350674.1:p.Thr654=
NM_001174090.2:c.2205A>T	NP_001167561.1:p.Thr735=
NM_032034.4:c.2124A>T	NP_114423.1:p.Thr708=
NM_001400277.1:c.2019A>T	NP_001387206.1:p.Thr673=
NM_001400278.1:c.2019A>T	NP_001387207.1:p.Thr673=
NM_001400279.1:c.2019A>T	NP_001387208.1:p.Thr673=
NM_001400280.1:c.2091A>T	NP_001387209.1:p.Thr697=
NR_174470.1:n.2599A>T
NR_174471.1:n.2584A>T