Canonical Allele Identifier: CA408093846

Gene: SLC4A11

Linked Data

• MyVariant Identifiers: chr20:g.3214852T>A (hg19) ; chr20:g.3234206T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3234206T>A , CM000682.2:g.3234206T>A	GRCh38
NC_000020.10:g.3214852T>A , CM000682.1:g.3214852T>A	GRCh37
NC_000020.9:g.3162852T>A	NCBI36
NG_017072.1:g.10036A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642402.1:c.400A>T MANE Select	ENSP00000493503.1:p.Asn134Tyr
ENST00000644011.1:c.331A>T	ENSP00000496214.1:p.Asn111Tyr
ENST00000644692.1:c.343A>T	ENSP00000493824.1:p.Asn115Tyr
ENST00000647296.1:c.400A>T	ENSP00000495050.1:p.Asn134Tyr
ENST00000380056.7:c.448A>T	ENSP00000369396.3:p.Asn150Tyr
ENST00000380059.7:c.529A>T	ENSP00000369399.3:p.Asn177Tyr
ENST00000474451.5:c.343A>T	ENSP00000476859.1:p.Asn115Tyr
ENST00000539553.6:c.400A>T	ENSP00000441370.1:p.Asn134Tyr
NM_001174089.1:c.400A>T	NP_001167560.1:p.Asn134Tyr
NM_001174090.1:c.529A>T	NP_001167561.1:p.Asn177Tyr
NM_032034.3:c.448A>T	NP_114423.1:p.Asn150Tyr
XM_005260856.3:c.883A>T	XP_005260913.1:p.Asn295Tyr
XM_005260857.1:c.343A>T	XP_005260914.1:p.Asn115Tyr
XM_011529383.1:c.367A>T	XP_011527685.1:p.Asn123Tyr
XM_011529384.1:c.343A>T	XP_011527686.1:p.Asn115Tyr
XM_011529385.1:c.343A>T	XP_011527687.1:p.Asn115Tyr
XM_011529386.1:c.883A>T	XP_011527688.1:p.Asn295Tyr
XR_937167.1:n.568A>T
NM_001363745.1:c.400A>T	NP_001350674.1:p.Asn134Tyr
NR_135000.1:n.568A>T
XM_005260856.5:c.883A>T	XP_005260913.1:p.Asn295Tyr
XM_011529383.3:c.367A>T	XP_011527685.1:p.Asn123Tyr
XM_017028093.1:c.883A>T	XP_016883582.1:p.Asn295Tyr
XM_017028094.1:c.343A>T	XP_016883583.1:p.Asn115Tyr
XM_017028096.1:c.343A>T	XP_016883585.1:p.Asn115Tyr
XM_017028097.1:c.883A>T	XP_016883586.1:p.Asn295Tyr
XR_001754419.1:n.993A>T
XR_001754420.2:n.993A>T
NM_001174089.2:c.400A>T MANE Select	NP_001167560.1:p.Asn134Tyr
NM_001363745.2:c.400A>T	NP_001350674.1:p.Asn134Tyr
NM_001174090.2:c.529A>T	NP_001167561.1:p.Asn177Tyr
NM_032034.4:c.448A>T	NP_114423.1:p.Asn150Tyr
NM_001400277.1:c.343A>T	NP_001387206.1:p.Asn115Tyr
NM_001400278.1:c.343A>T	NP_001387207.1:p.Asn115Tyr
NM_001400279.1:c.343A>T	NP_001387208.1:p.Asn115Tyr
NM_001400280.1:c.529A>T	NP_001387209.1:p.Asn177Tyr
NR_174470.1:n.958A>T
NR_174471.1:n.958A>T