Canonical Allele Identifier: CA408084573

Gene: SLC4A11

Linked Data

• MyVariant Identifiers: chr20:g.3208908A>T (hg19) ; chr20:g.3228262A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3228262A>T , CM000682.2:g.3228262A>T	GRCh38
NC_000020.10:g.3208908A>T , CM000682.1:g.3208908A>T	GRCh37
NC_000020.9:g.3156908A>T	NCBI36
NG_017072.1:g.15980T>A
NG_012093.2:g.24396A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000642402.1:c.2555T>A MANE Select	ENSP00000493503.1:p.Ile852Asn
ENST00000644011.1:c.2486T>A	ENSP00000496214.1:p.Ile829Asn
ENST00000644692.1:c.2354T>A	ENSP00000493824.1:p.Ile785Asn
ENST00000647296.1:c.2441T>A	ENSP00000495050.1:p.Ile814Asn
ENST00000380056.7:c.2603T>A	ENSP00000369396.3:p.Ile868Asn
ENST00000380059.7:c.2684T>A	ENSP00000369399.3:p.Ile895Asn
ENST00000474451.5:c.*703T>A	ENSP00000476859.1:n.*703T>A
ENST00000539553.6:c.2555T>A	ENSP00000441370.1:p.Ile852Asn
NM_001174089.1:c.2555T>A	NP_001167560.1:p.Ile852Asn
NM_001174090.1:c.2684T>A	NP_001167561.1:p.Ile895Asn
NM_032034.3:c.2603T>A	NP_114423.1:p.Ile868Asn
XM_005260856.3:c.2924T>A	XP_005260913.1:p.Ile975Asn
XM_005260857.1:c.2498T>A	XP_005260914.1:p.Ile833Asn
XM_011529383.1:c.2522T>A	XP_011527685.1:p.Ile841Asn
XM_011529384.1:c.2498T>A	XP_011527686.1:p.Ile833Asn
XM_011529385.1:c.2498T>A	XP_011527687.1:p.Ile833Asn
XR_937167.1:n.2653T>A
NM_001363745.1:c.2441T>A	NP_001350674.1:p.Ile814Asn
NR_135000.1:n.2653T>A
XM_005260856.5:c.2924T>A	XP_005260913.1:p.Ile975Asn
XM_011529383.3:c.2522T>A	XP_011527685.1:p.Ile841Asn
XM_017028093.1:c.2918T>A	XP_016883582.1:p.Ile973Asn
XM_017028094.1:c.2498T>A	XP_016883583.1:p.Ile833Asn
XM_017028096.1:c.2498T>A	XP_016883585.1:p.Ile833Asn
XR_001754419.1:n.3098T>A
XR_001754420.2:n.3078T>A
NM_001174089.2:c.2555T>A MANE Select	NP_001167560.1:p.Ile852Asn
NM_001363745.2:c.2441T>A	NP_001350674.1:p.Ile814Asn
NM_001174090.2:c.2684T>A	NP_001167561.1:p.Ile895Asn
NM_032034.4:c.2603T>A	NP_114423.1:p.Ile868Asn
NM_001400277.1:c.2498T>A	NP_001387206.1:p.Ile833Asn
NM_001400278.1:c.2498T>A	NP_001387207.1:p.Ile833Asn
NM_001400279.1:c.2498T>A	NP_001387208.1:p.Ile833Asn
NM_001400280.1:c.2570T>A	NP_001387209.1:p.Ile857Asn
NR_174470.1:n.3078T>A
NR_174471.1:n.3063T>A