Canonical Allele Identifier: CA6525405
Gene: ANO6 HGNC NCBI

Linked Data

ClinVar Variation Id: 2056697
dbSNP Id: rs200199011

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.45403109C>G , CM000674.2:g.45403109C>G GRCh38
NC_000012.11:g.45796892C>G , CM000674.1:g.45796892C>G GRCh37
NC_000012.10:g.44083159C>G NCBI36
NG_028220.1:g.192123C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000320560.13:c.1650C>G MANE Select ENSP00000320087.8:p.Leu550=
ENST00000679426.1:c.1617C>G ENSP00000506600.1:p.Leu539=
ENST00000679761.1:c.1650C>G ENSP00000505361.1:p.Leu550=
ENST00000680201.1:c.1650C>G ENSP00000506222.1:p.Leu550=
ENST00000680371.1:c.1650C>G ENSP00000506392.1:p.Leu550=
ENST00000680498.1:c.1233C>G ENSP00000506613.1:p.Leu411=
ENST00000681156.1:c.1650C>G ENSP00000506069.1:p.Leu550=
ENST00000681817.1:c.1233C>G ENSP00000506683.1:p.Leu411=
ENST00000320560.12:c.1650C>G ENSP00000320087.8:p.Leu550=
ENST00000423947.7:c.1713C>G ENSP00000409126.3:p.Leu571=
ENST00000425752.6:c.1650C>G ENSP00000391417.2:p.Leu550=
ENST00000426898.2:n.2066C>G
ENST00000441606.2:c.1596C>G ENSP00000413137.2:p.Leu532=
NM_001025356.2:c.1650C>G NP_001020527.2:p.Leu550=
NM_001142678.1:c.1596C>G NP_001136150.1:p.Leu532=
NM_001142679.1:c.1650C>G NP_001136151.1:p.Leu550=
NM_001204803.1:c.1713C>G NP_001191732.1:p.Leu571=
XM_005268706.3:c.1617C>G XP_005268763.1:p.Leu539=
XM_005268707.2:c.1551C>G XP_005268764.1:p.Leu517=
XM_011538024.1:c.1713C>G XP_011536326.1:p.Leu571=
XR_944886.1:n.1352-4885G>C
XR_944888.1:n.1352-4885G>C
XM_005268706.5:c.1617C>G XP_005268763.1:p.Leu539=
XM_005268707.4:c.1551C>G XP_005268764.1:p.Leu517=
XR_001749096.1:n.1353-4885G>C
XR_944886.2:n.1353-4885G>C
NM_001025356.3:c.1650C>G MANE Select NP_001020527.2:p.Leu550=
NM_001142678.2:c.1596C>G NP_001136150.1:p.Leu532=
NM_001142679.2:c.1650C>G NP_001136151.1:p.Leu550=
NM_001204803.2:c.1713C>G NP_001191732.1:p.Leu571=