Canonical Allele Identifier: CA9741453

Gene: SLC4A11

Linked Data

• dbSNP Id: rs373153897
• ExAC: 20:3208993 G / A
• MyVariant Identifiers: chr20:g.3208993G>A (hg19) ; chr20:g.3228347G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3228347G>A , CM000682.2:g.3228347G>A	GRCh38
NC_000020.10:g.3208993G>A , CM000682.1:g.3208993G>A	GRCh37
NC_000020.9:g.3156993G>A	NCBI36
NG_017072.1:g.15895C>T
NG_012093.2:g.24481G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000642402.1:c.2470C>T MANE Select	ENSP00000493503.1:p.Leu824=
ENST00000644011.1:c.2401C>T	ENSP00000496214.1:p.Leu801=
ENST00000644692.1:c.2269C>T	ENSP00000493824.1:p.Leu757=
ENST00000647296.1:c.2356C>T	ENSP00000495050.1:p.Leu786=
ENST00000380056.7:c.2518C>T	ENSP00000369396.3:p.Leu840=
ENST00000380059.7:c.2599C>T	ENSP00000369399.3:p.Leu867=
ENST00000474451.5:c.*618C>T	ENSP00000476859.1:n.*618C>T
ENST00000539553.6:c.2470C>T	ENSP00000441370.1:p.Leu824=
NM_001174089.1:c.2470C>T	NP_001167560.1:p.Leu824=
NM_001174090.1:c.2599C>T	NP_001167561.1:p.Leu867=
NM_032034.3:c.2518C>T	NP_114423.1:p.Leu840=
XM_005260856.3:c.2839C>T	XP_005260913.1:p.Leu947=
XM_005260857.1:c.2413C>T	XP_005260914.1:p.Leu805=
XM_011529383.1:c.2437C>T	XP_011527685.1:p.Leu813=
XM_011529384.1:c.2413C>T	XP_011527686.1:p.Leu805=
XM_011529385.1:c.2413C>T	XP_011527687.1:p.Leu805=
XR_937167.1:n.2568C>T
NM_001363745.1:c.2356C>T	NP_001350674.1:p.Leu786=
NR_135000.1:n.2568C>T
XM_005260856.5:c.2839C>T	XP_005260913.1:p.Leu947=
XM_011529383.3:c.2437C>T	XP_011527685.1:p.Leu813=
XM_017028093.1:c.2833C>T	XP_016883582.1:p.Leu945=
XM_017028094.1:c.2413C>T	XP_016883583.1:p.Leu805=
XM_017028096.1:c.2413C>T	XP_016883585.1:p.Leu805=
XR_001754419.1:n.3013C>T
XR_001754420.2:n.2993C>T
NM_001174089.2:c.2470C>T MANE Select	NP_001167560.1:p.Leu824=
NM_001363745.2:c.2356C>T	NP_001350674.1:p.Leu786=
NM_001174090.2:c.2599C>T	NP_001167561.1:p.Leu867=
NM_032034.4:c.2518C>T	NP_114423.1:p.Leu840=
NM_001400277.1:c.2413C>T	NP_001387206.1:p.Leu805=
NM_001400278.1:c.2413C>T	NP_001387207.1:p.Leu805=
NM_001400279.1:c.2413C>T	NP_001387208.1:p.Leu805=
NM_001400280.1:c.2485C>T	NP_001387209.1:p.Leu829=
NR_174470.1:n.2993C>T
NR_174471.1:n.2978C>T