Canonical Allele Identifier: CA379920833

Gene: ANO5

Linked Data

• MyVariant Identifiers: chr11:g.22271875G>C (hg19) ; chr11:g.22250329G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22250329G>C , CM000673.2:g.22250329G>C	GRCh38
NC_000011.9:g.22271875G>C , CM000673.1:g.22271875G>C	GRCh37
NC_000011.8:g.22228451G>C	NCBI36
NG_015844.1:g.62154G>C , LRG_868:g.62154G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682089.1:n.291G>C
ENST00000682266.1:c.521G>C	ENSP00000507766.1:p.Cys174Ser
ENST00000682341.1:c.929G>C	ENSP00000508251.1:p.Cys310Ser
ENST00000682530.1:c.*903G>C	ENSP00000506805.1:n.*903G>C
ENST00000683197.1:c.929G>C	ENSP00000507641.1:p.Cys310Ser
ENST00000683411.1:c.521G>C	ENSP00000508397.1:p.Cys174Ser
ENST00000683437.1:c.521G>C	ENSP00000508408.1:p.Cys174Ser
ENST00000683613.1:n.1965G>C
ENST00000683834.1:n.1171G>C
ENST00000684663.1:c.926G>C	ENSP00000508009.1:p.Cys309Ser
ENST00000324559.9:c.971G>C MANE Select	ENSP00000315371.9:p.Cys324Ser
ENST00000648804.1:n.1306G>C
ENST00000324559.8:c.971G>C	ENSP00000315371.8:p.Cys324Ser
NM_001142649.1:c.968G>C	NP_001136121.1:p.Cys323Ser
NM_213599.2:c.971G>C , LRG_868t1:c.971G>C	NP_998764.1:p.Cys324Ser
XM_005252820.2:c.929G>C	XP_005252877.2:p.Cys310Ser
XM_005252821.2:c.926G>C	XP_005252878.2:p.Cys309Ser
XM_005252822.3:c.893G>C	XP_005252879.1:p.Cys298Ser
XM_005252823.3:c.890G>C	XP_005252880.1:p.Cys297Ser
XM_011519949.1:c.878G>C	XP_011518251.1:p.Cys293Ser
XM_005252820.3:c.929G>C	XP_005252877.2:p.Cys310Ser
XM_005252821.3:c.926G>C	XP_005252878.2:p.Cys309Ser
XM_005252822.4:c.893G>C	XP_005252879.1:p.Cys298Ser
XM_011519949.2:c.878G>C	XP_011518251.1:p.Cys293Ser
NM_001142649.2:c.968G>C	NP_001136121.1:p.Cys323Ser
NM_213599.3:c.971G>C MANE Select	NP_998764.1:p.Cys324Ser