Canonical Allele Identifier: CA6805895

Gene: SLC8B1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.113299962C>T , CM000674.2:g.113299962C>T	GRCh38
NC_000012.11:g.113737767C>T , CM000674.1:g.113737767C>T	GRCh37
NC_000012.10:g.112222150C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000680972.1:c.1570G>A MANE Select	ENSP00000506377.1:p.Gly524Arg
ENST00000202831.7:c.1570G>A	ENSP00000202831.3:p.Gly524Arg
ENST00000546737.5:c.1402G>A	ENSP00000450081.1:p.Gly468Arg
ENST00000549069.5:c.247G>A	ENSP00000449519.1:p.Gly83Arg
ENST00000550047.5:c.115G>A	ENSP00000447585.1:p.Gly39Arg
ENST00000550672.5:c.1740G>A
ENST00000552014.5:c.1570G>A	ENSP00000447091.1:p.Gly524Arg
ENST00000552565.5:n.1098G>A
NM_024959.2:c.1570G>A	NP_079235.2:p.Gly524Arg
XM_006719607.1:c.985G>A	XP_006719670.1:p.Gly329Arg
XM_011538749.1:c.1570G>A	XP_011537051.1:p.Gly524Arg
XM_011538750.1:c.1402G>A	XP_011537052.1:p.Gly468Arg
XM_011538751.1:c.985G>A	XP_011537053.1:p.Gly329Arg
XM_011538752.1:c.985G>A	XP_011537054.1:p.Gly329Arg
XM_011538753.1:c.985G>A	XP_011537055.1:p.Gly329Arg
NM_001330466.1:c.1402G>A	NP_001317395.1:p.Gly468Arg
NM_001358345.1:c.1570G>A	NP_001345274.1:p.Gly524Arg
NM_024959.3:c.1570G>A	NP_079235.2:p.Gly524Arg
NR_152403.1:n.2352G>A
XM_011538752.2:c.985G>A	XP_011537054.1:p.Gly329Arg
NM_001330466.2:c.1402G>A	NP_001317395.1:p.Gly468Arg
NM_001358345.2:c.1570G>A MANE Select	NP_001345274.1:p.Gly524Arg
NR_152403.2:n.2293G>A
NM_024959.4:c.1570G>A	NP_079235.2:p.Gly524Arg