Canonical Allele Identifier: CA408094037

Gene: SLC4A11

Linked Data

• MyVariant Identifiers: chr20:g.3214888T>G (hg19) ; chr20:g.3234242T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3234242T>G , CM000682.2:g.3234242T>G	GRCh38
NC_000020.10:g.3214888T>G , CM000682.1:g.3214888T>G	GRCh37
NC_000020.9:g.3162888T>G	NCBI36
NG_017072.1:g.10000A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642402.1:c.364A>C MANE Select	ENSP00000493503.1:p.Ser122Arg
ENST00000644011.1:c.295A>C	ENSP00000496214.1:p.Ser99Arg
ENST00000644692.1:c.307A>C	ENSP00000493824.1:p.Ser103Arg
ENST00000647296.1:c.364A>C	ENSP00000495050.1:p.Ser122Arg
ENST00000380056.7:c.412A>C	ENSP00000369396.3:p.Ser138Arg
ENST00000380059.7:c.493A>C	ENSP00000369399.3:p.Ser165Arg
ENST00000437836.2:c.307A>C	ENSP00000404271.2:p.Ser103Arg
ENST00000474451.5:c.307A>C	ENSP00000476859.1:p.Ser103Arg
ENST00000539553.6:c.364A>C	ENSP00000441370.1:p.Ser122Arg
NM_001174089.1:c.364A>C	NP_001167560.1:p.Ser122Arg
NM_001174090.1:c.493A>C	NP_001167561.1:p.Ser165Arg
NM_032034.3:c.412A>C	NP_114423.1:p.Ser138Arg
XM_005260856.3:c.847A>C	XP_005260913.1:p.Ser283Arg
XM_005260857.1:c.307A>C	XP_005260914.1:p.Ser103Arg
XM_011529383.1:c.331A>C	XP_011527685.1:p.Ser111Arg
XM_011529384.1:c.307A>C	XP_011527686.1:p.Ser103Arg
XM_011529385.1:c.307A>C	XP_011527687.1:p.Ser103Arg
XM_011529386.1:c.847A>C	XP_011527688.1:p.Ser283Arg
XR_937167.1:n.532A>C
NM_001363745.1:c.364A>C	NP_001350674.1:p.Ser122Arg
NR_135000.1:n.532A>C
XM_005260856.5:c.847A>C	XP_005260913.1:p.Ser283Arg
XM_011529383.3:c.331A>C	XP_011527685.1:p.Ser111Arg
XM_017028093.1:c.847A>C	XP_016883582.1:p.Ser283Arg
XM_017028094.1:c.307A>C	XP_016883583.1:p.Ser103Arg
XM_017028096.1:c.307A>C	XP_016883585.1:p.Ser103Arg
XM_017028097.1:c.847A>C	XP_016883586.1:p.Ser283Arg
XR_001754419.1:n.957A>C
XR_001754420.2:n.957A>C
NM_001174089.2:c.364A>C MANE Select	NP_001167560.1:p.Ser122Arg
NM_001363745.2:c.364A>C	NP_001350674.1:p.Ser122Arg
NM_001174090.2:c.493A>C	NP_001167561.1:p.Ser165Arg
NM_032034.4:c.412A>C	NP_114423.1:p.Ser138Arg
NM_001400277.1:c.307A>C	NP_001387206.1:p.Ser103Arg
NM_001400278.1:c.307A>C	NP_001387207.1:p.Ser103Arg
NM_001400279.1:c.307A>C	NP_001387208.1:p.Ser103Arg
NM_001400280.1:c.493A>C	NP_001387209.1:p.Ser165Arg
NR_174470.1:n.922A>C
NR_174471.1:n.922A>C