Canonical Allele Identifier: CA6570484

Gene: SLC4A8

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51463713C>T , CM000674.2:g.51463713C>T	GRCh38
NC_000012.11:g.51857497C>T , CM000674.1:g.51857497C>T	GRCh37
NC_000012.10:g.50143764C>T	NCBI36
NG_032675.1:g.77267C>T
NG_032675.2:g.77267C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001039960.3:c.1348C>T MANE Select	NP_001035049.1:p.Arg450Trp
ENST00000453097.7:c.1348C>T MANE Select	ENSP00000405812.2:p.Arg450Trp
NM_001039960.2:c.1348C>T	NP_001035049.1:p.Arg450Trp
NM_001258401.2:c.1189C>T	NP_001245330.1:p.Arg397Trp
NM_001258401.3:c.1189C>T	NP_001245330.1:p.Arg397Trp
NM_001258402.1:c.1348C>T	NP_001245331.1:p.Arg450Trp
NM_001258402.2:c.1348C>T	NP_001245331.1:p.Arg450Trp
NM_001258403.1:c.1189C>T	NP_001245332.1:p.Arg397Trp
NM_001258403.2:c.1189C>T	NP_001245332.1:p.Arg397Trp
NM_001267615.1:c.1189C>T	NP_001254544.1:p.Arg397Trp
NM_001267615.2:c.1189C>T	NP_001254544.1:p.Arg397Trp
ENST00000319957.10:n.1363C>T
ENST00000358657.7:c.1189C>T	ENSP00000351483.4:p.Arg397Trp
ENST00000453097.6:c.1348C>T	ENSP00000405812.2:p.Arg450Trp
ENST00000514353.7:c.1189C>T	ENSP00000442561.2:p.Arg397Trp
ENST00000535225.6:c.1189C>T	ENSP00000441520.1:p.Arg397Trp
ENST00000550211.1:n.321C>T
ENST00000551071.5:n.1534C>T
ENST00000604314.5:n.1427C>T
XM_006719700.1:c.1348C>T	XP_006719763.1:p.Arg450Trp
XM_011539010.1:c.1348C>T	XP_011537312.1:p.Arg450Trp
XM_011539011.1:c.1189C>T	XP_011537313.1:p.Arg397Trp
XM_011539012.1:c.1348C>T	XP_011537314.1:p.Arg450Trp
XM_011539013.1:c.727C>T	XP_011537315.1:p.Arg243Trp
XM_017020240.1:c.1312C>T	XP_016875729.1:p.Arg438Trp
XM_017020241.2:c.1429C>T	XP_016875730.1:p.Arg477Trp
XM_017020242.1:c.1189C>T	XP_016875731.1:p.Arg397Trp
XM_024449282.1:c.1189C>T	XP_024305050.1:p.Arg397Trp