Canonical Allele Identifier: CA384874565

Gene: SLC4A8

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51475054G>A , CM000674.2:g.51475054G>A	GRCh38
NC_000012.11:g.51868838G>A , CM000674.1:g.51868838G>A	GRCh37
NC_000012.10:g.50155105G>A	NCBI36
NG_032675.1:g.88608G>A
NG_032675.2:g.88608G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001039960.3:c.2020G>A MANE Select	NP_001035049.1:p.Glu674Lys
ENST00000453097.7:c.2020G>A MANE Select	ENSP00000405812.2:p.Glu674Lys
NM_001039960.2:c.2020G>A	NP_001035049.1:p.Glu674Lys
NM_001258401.2:c.1861G>A	NP_001245330.1:p.Glu621Lys
NM_001258401.3:c.1861G>A	NP_001245330.1:p.Glu621Lys
NM_001258403.1:c.1861G>A	NP_001245332.1:p.Glu621Lys
NM_001258403.2:c.1861G>A	NP_001245332.1:p.Glu621Lys
ENST00000319957.10:n.2035G>A
ENST00000358657.7:c.1861G>A	ENSP00000351483.4:p.Glu621Lys
ENST00000453097.6:c.2020G>A	ENSP00000405812.2:p.Glu674Lys
ENST00000514353.7:c.1861G>A	ENSP00000442561.2:p.Glu621Lys
ENST00000551071.5:n.2206G>A
ENST00000604314.5:n.2099G>A
XM_006719700.1:c.2020G>A	XP_006719763.1:p.Glu674Lys
XM_011539010.1:c.2020G>A	XP_011537312.1:p.Glu674Lys
XM_011539011.1:c.1861G>A	XP_011537313.1:p.Glu621Lys
XM_011539012.1:c.2020G>A	XP_011537314.1:p.Glu674Lys
XM_011539013.1:c.1399G>A	XP_011537315.1:p.Glu467Lys
XM_011539014.1:c.553G>A	XP_011537316.1:p.Glu185Lys
XM_011539014.3:c.553G>A	XP_011537316.1:p.Glu185Lys
XM_017020240.1:c.1984G>A	XP_016875729.1:p.Glu662Lys
XM_017020241.2:c.2101G>A	XP_016875730.1:p.Glu701Lys
XM_017020242.1:c.1861G>A	XP_016875731.1:p.Glu621Lys
XM_024449282.1:c.1861G>A	XP_024305050.1:p.Glu621Lys