Canonical Allele Identifier: CA11295952

Gene: SLC4A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219640699C>T , CM000664.2:g.219640699C>T	GRCh38
NC_000002.11:g.220505421C>T , CM000664.1:g.220505421C>T	GRCh37
NC_000002.10:g.220213665C>T	NCBI36
NG_050748.1:g.18130C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005070.4:c.3448-90C>T MANE Select	NP_005061.3:n.3448-90C>T
ENST00000358055.8:c.3448-90C>T MANE Select	ENSP00000350756.3:n.3448-90C>T
NM_001326559.1:c.3529-90C>T	NP_001313488.1:n.3529-90C>T
NM_001326559.2:c.3529-90C>T	NP_001313488.2:n.3529-90C>T
NM_005070.3:c.3448-90C>T	NP_005061.2:n.3448-90C>T
NM_201574.2:c.3529-90C>T	NP_963868.2:n.3529-90C>T
NM_201574.3:c.3529-90C>T	NP_963868.3:n.3529-90C>T
NR_048551.1:n.3742-90C>T
NR_048551.2:n.3682-90C>T
ENST00000273063.10:c.3529-90C>T	ENSP00000273063.6:n.3529-90C>T
ENST00000317151.7:c.3448-90C>T	ENSP00000314006.3:n.3448-90C>T
ENST00000358055.7:c.3448-90C>T	ENSP00000350756.3:n.3448-90C>T
ENST00000373760.6:c.3448-90C>T	ENSP00000362865.2:n.3448-90C>T
ENST00000425141.5:c.*1916-90C>T	ENSP00000396863.1:n.*1916-90C>T
XM_005246789.3:c.3529-90C>T	XP_005246846.1:n.3529-90C>T
XM_005246790.3:c.2854-90C>T	XP_005246847.1:n.2854-90C>T
XM_005246790.4:c.2854-90C>T	XP_005246847.1:n.2854-90C>T
XM_011511665.1:c.3370-90C>T	XP_011509967.1:n.3370-90C>T
XM_011511665.2:c.3370-90C>T	XP_011509967.1:n.3370-90C>T
XM_011511667.1:c.1975-90C>T	XP_011509969.1:n.1975-90C>T
XM_011511667.2:c.1975-90C>T	XP_011509969.1:n.1975-90C>T