Canonical Allele Identifier: CA384461416

Gene: ANO6

Linked Data

• MyVariant Identifiers: chr12:g.45797225G>T (hg19) ; chr12:g.45403442G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.45403442G>T , CM000674.2:g.45403442G>T	GRCh38
NC_000012.11:g.45797225G>T , CM000674.1:g.45797225G>T	GRCh37
NC_000012.10:g.44083492G>T	NCBI36
NG_028220.1:g.192456G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000320560.13:c.1786G>T MANE Select	ENSP00000320087.8:p.Asp596Tyr
ENST00000679426.1:c.1753G>T	ENSP00000506600.1:p.Asp585Tyr
ENST00000679761.1:c.1786G>T	ENSP00000505361.1:p.Asp596Tyr
ENST00000680201.1:c.1786G>T	ENSP00000506222.1:p.Asp596Tyr
ENST00000680371.1:c.1786G>T	ENSP00000506392.1:p.Asp596Tyr
ENST00000680498.1:c.1369G>T	ENSP00000506613.1:p.Asp457Tyr
ENST00000681156.1:c.1786G>T	ENSP00000506069.1:p.Asp596Tyr
ENST00000681817.1:c.1369G>T	ENSP00000506683.1:p.Asp457Tyr
ENST00000320560.12:c.1786G>T	ENSP00000320087.8:p.Asp596Tyr
ENST00000423947.7:c.1849G>T	ENSP00000409126.3:p.Asp617Tyr
ENST00000425752.6:c.1786G>T	ENSP00000391417.2:p.Asp596Tyr
ENST00000426898.2:n.2202G>T
ENST00000441606.2:c.1732G>T	ENSP00000413137.2:p.Asp578Tyr
NM_001025356.2:c.1786G>T	NP_001020527.2:p.Asp596Tyr
NM_001142678.1:c.1732G>T	NP_001136150.1:p.Asp578Tyr
NM_001142679.1:c.1786G>T	NP_001136151.1:p.Asp596Tyr
NM_001204803.1:c.1849G>T	NP_001191732.1:p.Asp617Tyr
XM_005268706.3:c.1753G>T	XP_005268763.1:p.Asp585Tyr
XM_005268707.2:c.1687G>T	XP_005268764.1:p.Asp563Tyr
XM_011538024.1:c.1849G>T	XP_011536326.1:p.Asp617Tyr
XR_944886.1:n.1352-5218C>A
XR_944888.1:n.1352-5218C>A
XM_005268706.5:c.1753G>T	XP_005268763.1:p.Asp585Tyr
XM_005268707.4:c.1687G>T	XP_005268764.1:p.Asp563Tyr
XR_001749096.1:n.1353-5218C>A
XR_944886.2:n.1353-5218C>A
NM_001025356.3:c.1786G>T MANE Select	NP_001020527.2:p.Asp596Tyr
NM_001142678.2:c.1732G>T	NP_001136150.1:p.Asp578Tyr
NM_001142679.2:c.1786G>T	NP_001136151.1:p.Asp596Tyr
NM_001204803.2:c.1849G>T	NP_001191732.1:p.Asp617Tyr