Canonical Allele Identifier: CA384465588

Gene: ANO6

Linked Data

• MyVariant Identifiers: chr12:g.45741864A>C (hg19) ; chr12:g.45348081A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.45348081A>C , CM000674.2:g.45348081A>C	GRCh38
NC_000012.11:g.45741864A>C , CM000674.1:g.45741864A>C	GRCh37
NC_000012.10:g.44028131A>C	NCBI36
NG_028220.1:g.137095A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320560.13:c.399A>C MANE Select	ENSP00000320087.8:p.Leu133Phe
ENST00000679426.1:c.366A>C	ENSP00000506600.1:p.Leu122Phe
ENST00000679761.1:c.399A>C	ENSP00000505361.1:p.Leu133Phe
ENST00000680201.1:c.399A>C	ENSP00000506222.1:p.Leu133Phe
ENST00000680371.1:c.399A>C	ENSP00000506392.1:p.Leu133Phe
ENST00000680498.1:c.-19A>C	ENSP00000506613.1:n.-19A>C
ENST00000681156.1:c.399A>C	ENSP00000506069.1:p.Leu133Phe
ENST00000681817.1:c.-19A>C	ENSP00000506683.1:n.-19A>C
ENST00000320560.12:c.399A>C	ENSP00000320087.8:p.Leu133Phe
ENST00000423947.7:c.462A>C	ENSP00000409126.3:p.Leu154Phe
ENST00000425752.6:c.399A>C	ENSP00000391417.2:p.Leu133Phe
ENST00000426898.2:n.654A>C
ENST00000441606.2:c.345A>C	ENSP00000413137.2:p.Leu115Phe
NM_001025356.2:c.399A>C	NP_001020527.2:p.Leu133Phe
NM_001142678.1:c.345A>C	NP_001136150.1:p.Leu115Phe
NM_001142679.1:c.399A>C	NP_001136151.1:p.Leu133Phe
NM_001204803.1:c.462A>C	NP_001191732.1:p.Leu154Phe
XM_005268706.3:c.366A>C	XP_005268763.1:p.Leu122Phe
XM_005268707.2:c.300A>C	XP_005268764.1:p.Leu100Phe
XM_011538024.1:c.462A>C	XP_011536326.1:p.Leu154Phe
XM_005268706.5:c.366A>C	XP_005268763.1:p.Leu122Phe
XM_005268707.4:c.300A>C	XP_005268764.1:p.Leu100Phe
NM_001025356.3:c.399A>C MANE Select	NP_001020527.2:p.Leu133Phe
NM_001142678.2:c.345A>C	NP_001136150.1:p.Leu115Phe
NM_001142679.2:c.399A>C	NP_001136151.1:p.Leu133Phe
NM_001204803.2:c.462A>C	NP_001191732.1:p.Leu154Phe