Canonical Allele Identifier: CA379925217

Gene: ANO5

Linked Data

• MyVariant Identifiers: chr11:g.22242670T>C (hg19) ; chr11:g.22221124T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22221124T>C , CM000673.2:g.22221124T>C	GRCh38
NC_000011.9:g.22242670T>C , CM000673.1:g.22242670T>C	GRCh37
NC_000011.8:g.22199246T>C	NCBI36
NG_015844.1:g.32949T>C , LRG_868:g.32949T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682266.1:c.-243T>C	ENSP00000507766.1:n.-243T>C
ENST00000682341.1:c.166T>C	ENSP00000508251.1:p.Ser56Pro
ENST00000682530.1:c.*140T>C	ENSP00000506805.1:n.*140T>C
ENST00000682684.1:n.587T>C
ENST00000683197.1:c.166T>C	ENSP00000507641.1:p.Ser56Pro
ENST00000683411.1:c.-243T>C	ENSP00000508397.1:n.-243T>C
ENST00000683437.1:c.-243T>C	ENSP00000508408.1:n.-243T>C
ENST00000683613.1:n.1202T>C
ENST00000683834.1:n.408T>C
ENST00000683897.1:n.452T>C
ENST00000684365.1:n.577T>C
ENST00000684663.1:c.163T>C	ENSP00000508009.1:p.Ser55Pro
ENST00000324559.9:c.208T>C MANE Select	ENSP00000315371.9:p.Ser70Pro
ENST00000648804.1:n.773T>C
ENST00000324559.8:c.208T>C	ENSP00000315371.8:p.Ser70Pro
NM_001142649.1:c.205T>C	NP_001136121.1:p.Ser69Pro
NM_213599.2:c.208T>C , LRG_868t1:c.208T>C	NP_998764.1:p.Ser70Pro
XM_005252820.2:c.166T>C	XP_005252877.2:p.Ser56Pro
XM_005252821.2:c.163T>C	XP_005252878.2:p.Ser55Pro
XM_005252822.3:c.130T>C	XP_005252879.1:p.Ser44Pro
XM_005252823.3:c.127T>C	XP_005252880.1:p.Ser43Pro
XM_011519949.1:c.115T>C	XP_011518251.1:p.Ser39Pro
XM_005252820.3:c.166T>C	XP_005252877.2:p.Ser56Pro
XM_005252821.3:c.163T>C	XP_005252878.2:p.Ser55Pro
XM_005252822.4:c.130T>C	XP_005252879.1:p.Ser44Pro
XM_011519949.2:c.115T>C	XP_011518251.1:p.Ser39Pro
NM_001142649.2:c.205T>C	NP_001136121.1:p.Ser69Pro
NM_213599.3:c.208T>C MANE Select	NP_998764.1:p.Ser70Pro