Canonical Allele Identifier: CA384461401

Gene: ANO6

Linked Data

• gnomAD v4: 12-45403439-T-G
• MyVariant Identifiers: chr12:g.45797222T>G (hg19) ; chr12:g.45403439T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.45403439T>G , CM000674.2:g.45403439T>G	GRCh38
NC_000012.11:g.45797222T>G , CM000674.1:g.45797222T>G	GRCh37
NC_000012.10:g.44083489T>G	NCBI36
NG_028220.1:g.192453T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320560.13:c.1783T>G MANE Select	ENSP00000320087.8:p.Cys595Gly
ENST00000679426.1:c.1750T>G	ENSP00000506600.1:p.Cys584Gly
ENST00000679761.1:c.1783T>G	ENSP00000505361.1:p.Cys595Gly
ENST00000680201.1:c.1783T>G	ENSP00000506222.1:p.Cys595Gly
ENST00000680371.1:c.1783T>G	ENSP00000506392.1:p.Cys595Gly
ENST00000680498.1:c.1366T>G	ENSP00000506613.1:p.Cys456Gly
ENST00000681156.1:c.1783T>G	ENSP00000506069.1:p.Cys595Gly
ENST00000681817.1:c.1366T>G	ENSP00000506683.1:p.Cys456Gly
ENST00000320560.12:c.1783T>G	ENSP00000320087.8:p.Cys595Gly
ENST00000423947.7:c.1846T>G	ENSP00000409126.3:p.Cys616Gly
ENST00000425752.6:c.1783T>G	ENSP00000391417.2:p.Cys595Gly
ENST00000426898.2:n.2199T>G
ENST00000441606.2:c.1729T>G	ENSP00000413137.2:p.Cys577Gly
NM_001025356.2:c.1783T>G	NP_001020527.2:p.Cys595Gly
NM_001142678.1:c.1729T>G	NP_001136150.1:p.Cys577Gly
NM_001142679.1:c.1783T>G	NP_001136151.1:p.Cys595Gly
NM_001204803.1:c.1846T>G	NP_001191732.1:p.Cys616Gly
XM_005268706.3:c.1750T>G	XP_005268763.1:p.Cys584Gly
XM_005268707.2:c.1684T>G	XP_005268764.1:p.Cys562Gly
XM_011538024.1:c.1846T>G	XP_011536326.1:p.Cys616Gly
XR_944886.1:n.1352-5215A>C
XR_944888.1:n.1352-5215A>C
XM_005268706.5:c.1750T>G	XP_005268763.1:p.Cys584Gly
XM_005268707.4:c.1684T>G	XP_005268764.1:p.Cys562Gly
XR_001749096.1:n.1353-5215A>C
XR_944886.2:n.1353-5215A>C
NM_001025356.3:c.1783T>G MANE Select	NP_001020527.2:p.Cys595Gly
NM_001142678.2:c.1729T>G	NP_001136150.1:p.Cys577Gly
NM_001142679.2:c.1783T>G	NP_001136151.1:p.Cys595Gly
NM_001204803.2:c.1846T>G	NP_001191732.1:p.Cys616Gly