Canonical Allele Identifier: CA408093758

Gene: SLC4A11

Linked Data

• MyVariant Identifiers: chr20:g.3214835C>T (hg19) ; chr20:g.3234189C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3234189C>T , CM000682.2:g.3234189C>T	GRCh38
NC_000020.10:g.3214835C>T , CM000682.1:g.3214835C>T	GRCh37
NC_000020.9:g.3162835C>T	NCBI36
NG_017072.1:g.10053G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642402.1:c.417G>A MANE Select	ENSP00000493503.1:p.Met139Ile
ENST00000644011.1:c.348G>A	ENSP00000496214.1:p.Met116Ile
ENST00000644692.1:c.360G>A	ENSP00000493824.1:p.Met120Ile
ENST00000647296.1:c.417G>A	ENSP00000495050.1:p.Met139Ile
ENST00000380056.7:c.465G>A	ENSP00000369396.3:p.Met155Ile
ENST00000380059.7:c.546G>A	ENSP00000369399.3:p.Met182Ile
ENST00000474451.5:c.360G>A	ENSP00000476859.1:p.Met120Ile
ENST00000539553.6:c.417G>A	ENSP00000441370.1:p.Met139Ile
NM_001174089.1:c.417G>A	NP_001167560.1:p.Met139Ile
NM_001174090.1:c.546G>A	NP_001167561.1:p.Met182Ile
NM_032034.3:c.465G>A	NP_114423.1:p.Met155Ile
XM_005260856.3:c.900G>A	XP_005260913.1:p.Met300Ile
XM_005260857.1:c.360G>A	XP_005260914.1:p.Met120Ile
XM_011529383.1:c.384G>A	XP_011527685.1:p.Met128Ile
XM_011529384.1:c.360G>A	XP_011527686.1:p.Met120Ile
XM_011529385.1:c.360G>A	XP_011527687.1:p.Met120Ile
XM_011529386.1:c.900G>A	XP_011527688.1:p.Met300Ile
XR_937167.1:n.585G>A
NM_001363745.1:c.417G>A	NP_001350674.1:p.Met139Ile
NR_135000.1:n.585G>A
XM_005260856.5:c.900G>A	XP_005260913.1:p.Met300Ile
XM_011529383.3:c.384G>A	XP_011527685.1:p.Met128Ile
XM_017028093.1:c.900G>A	XP_016883582.1:p.Met300Ile
XM_017028094.1:c.360G>A	XP_016883583.1:p.Met120Ile
XM_017028096.1:c.360G>A	XP_016883585.1:p.Met120Ile
XM_017028097.1:c.900G>A	XP_016883586.1:p.Met300Ile
XR_001754419.1:n.1010G>A
XR_001754420.2:n.1010G>A
NM_001174089.2:c.417G>A MANE Select	NP_001167560.1:p.Met139Ile
NM_001363745.2:c.417G>A	NP_001350674.1:p.Met139Ile
NM_001174090.2:c.546G>A	NP_001167561.1:p.Met182Ile
NM_032034.4:c.465G>A	NP_114423.1:p.Met155Ile
NM_001400277.1:c.360G>A	NP_001387206.1:p.Met120Ile
NM_001400278.1:c.360G>A	NP_001387207.1:p.Met120Ile
NM_001400279.1:c.360G>A	NP_001387208.1:p.Met120Ile
NM_001400280.1:c.546G>A	NP_001387209.1:p.Met182Ile
NR_174470.1:n.975G>A
NR_174471.1:n.975G>A