Canonical Allele Identifier: CA379925597
Community Standard Title: NM_213599.3(ANO5):c.294+1G>A
Gene: ANO5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.22221211G>A , CM000673.2:g.22221211G>A GRCh38
NC_000011.9:g.22242757G>A , CM000673.1:g.22242757G>A GRCh37
NC_000011.8:g.22199333G>A NCBI36
NG_015844.1:g.33036G>A , LRG_868:g.33036G>A

Transcript Alleles

HGVS Amino-acid Change
NM_213599.3:c.294+1G>A MANE Select NP_998764.1:n.294+1G>A
ENST00000324559.9:c.294+1G>A MANE Select ENSP00000315371.9:n.294+1G>A
NM_001142649.1:c.291+1G>A NP_001136121.1:n.291+1G>A
NM_001142649.2:c.291+1G>A NP_001136121.1:n.291+1G>A
NM_213599.2:c.294+1G>A , LRG_868t1:c.294+1G>A NP_998764.1:n.294+1G>A
ENST00000324559.8:c.294+1G>A ENSP00000315371.8:n.294+1G>A
ENST00000648804.1:n.859+1G>A
ENST00000682266.1:c.-157+1G>A ENSP00000507766.1:n.-157+1G>A
ENST00000682341.1:c.252+1G>A ENSP00000508251.1:n.252+1G>A
ENST00000682530.1:c.*226+1G>A ENSP00000506805.1:n.*226+1G>A
ENST00000682684.1:n.673+1G>A
ENST00000683197.1:c.252+1G>A ENSP00000507641.1:n.252+1G>A
ENST00000683411.1:c.-157+1G>A ENSP00000508397.1:n.-157+1G>A
ENST00000683437.1:c.-157+1G>A ENSP00000508408.1:n.-157+1G>A
ENST00000683613.1:n.1288+1G>A
ENST00000683834.1:n.494+1G>A
ENST00000683897.1:n.539G>A
ENST00000684365.1:n.664G>A
ENST00000684663.1:c.249+1G>A ENSP00000508009.1:n.249+1G>A
XM_005252820.2:c.252+1G>A XP_005252877.2:n.252+1G>A
XM_005252820.3:c.252+1G>A XP_005252877.2:n.252+1G>A
XM_005252821.2:c.249+1G>A XP_005252878.2:n.249+1G>A
XM_005252821.3:c.249+1G>A XP_005252878.2:n.249+1G>A
XM_005252822.3:c.216+1G>A XP_005252879.1:n.216+1G>A
XM_005252822.4:c.216+1G>A XP_005252879.1:n.216+1G>A
XM_005252823.3:c.213+1G>A XP_005252880.1:n.213+1G>A
XM_011519949.1:c.201+1G>A XP_011518251.1:n.201+1G>A
XM_011519949.2:c.201+1G>A XP_011518251.1:n.201+1G>A