Canonical Allele Identifier: CA379924751

Gene: ANO5

Linked Data

• MyVariant Identifiers: chr11:g.22239795G>C (hg19) ; chr11:g.22218249G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22218249G>C , CM000673.2:g.22218249G>C	GRCh38
NC_000011.9:g.22239795G>C , CM000673.1:g.22239795G>C	GRCh37
NC_000011.8:g.22196371G>C	NCBI36
NG_015844.1:g.30074G>C , LRG_868:g.30074G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682084.1:n.3316G>C
ENST00000682266.1:c.-270-2848G>C	ENSP00000507766.1:n.-270-2848G>C
ENST00000682341.1:c.139-2848G>C	ENSP00000508251.1:n.139-2848G>C
ENST00000682530.1:c.136-494G>C	ENSP00000506805.1:n.136-494G>C
ENST00000682684.1:n.560-2848G>C
ENST00000683197.1:c.139-2848G>C	ENSP00000507641.1:n.139-2848G>C
ENST00000683411.1:c.-270-2848G>C	ENSP00000508397.1:n.-270-2848G>C
ENST00000683437.1:c.-270-2848G>C	ENSP00000508408.1:n.-270-2848G>C
ENST00000683834.1:n.381-2848G>C
ENST00000683897.1:n.425-2848G>C
ENST00000684365.1:n.550-2848G>C
ENST00000684663.1:c.136-2848G>C	ENSP00000508009.1:n.136-2848G>C
ENST00000324559.9:c.142G>C MANE Select	ENSP00000315371.9:p.Ala48Pro
ENST00000648804.1:n.670-337G>C
ENST00000324559.8:c.142G>C	ENSP00000315371.8:p.Ala48Pro
NM_001142649.1:c.139G>C	NP_001136121.1:p.Ala47Pro
NM_213599.2:c.142G>C , LRG_868t1:c.142G>C	NP_998764.1:p.Ala48Pro
XM_005252820.2:c.139-2848G>C	XP_005252877.2:n.139-2848G>C
XM_005252821.2:c.136-2848G>C	XP_005252878.2:n.136-2848G>C
XM_005252822.3:c.64G>C	XP_005252879.1:p.Ala22Pro
XM_005252823.3:c.61G>C	XP_005252880.1:p.Ala21Pro
XM_011519949.1:c.88-2848G>C	XP_011518251.1:n.88-2848G>C
XM_005252820.3:c.139-2848G>C	XP_005252877.2:n.139-2848G>C
XM_005252821.3:c.136-2848G>C	XP_005252878.2:n.136-2848G>C
XM_005252822.4:c.64G>C	XP_005252879.1:p.Ala22Pro
XM_011519949.2:c.88-2848G>C	XP_011518251.1:n.88-2848G>C
NM_001142649.2:c.139G>C	NP_001136121.1:p.Ala47Pro
NM_213599.3:c.142G>C MANE Select	NP_998764.1:p.Ala48Pro