Canonical Allele Identifier: CA379921648

Gene: ANO5

Linked Data

• MyVariant Identifiers: chr11:g.22277047G>T (hg19) ; chr11:g.22255501G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22255501G>T , CM000673.2:g.22255501G>T	GRCh38
NC_000011.9:g.22277047G>T , CM000673.1:g.22277047G>T	GRCh37
NC_000011.8:g.22233623G>T	NCBI36
NG_015844.1:g.67326G>T , LRG_868:g.67326G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682089.1:n.631G>T
ENST00000682266.1:c.861G>T	ENSP00000507766.1:p.Arg287Ser
ENST00000682341.1:c.1269G>T	ENSP00000508251.1:p.Arg423Ser
ENST00000682530.1:c.*1243G>T	ENSP00000506805.1:n.*1243G>T
ENST00000683197.1:c.1269G>T	ENSP00000507641.1:p.Arg423Ser
ENST00000683411.1:c.861G>T	ENSP00000508397.1:p.Arg287Ser
ENST00000683437.1:c.861G>T	ENSP00000508408.1:p.Arg287Ser
ENST00000683613.1:n.2305G>T
ENST00000683834.1:n.1511G>T
ENST00000684663.1:c.1266G>T	ENSP00000508009.1:p.Arg422Ser
ENST00000324559.9:c.1311G>T MANE Select	ENSP00000315371.9:p.Arg437Ser
ENST00000648804.1:n.1646G>T
ENST00000324559.8:c.1311G>T	ENSP00000315371.8:p.Arg437Ser
NM_001142649.1:c.1308G>T	NP_001136121.1:p.Arg436Ser
NM_213599.2:c.1311G>T , LRG_868t1:c.1311G>T	NP_998764.1:p.Arg437Ser
XM_005252820.2:c.1269G>T	XP_005252877.2:p.Arg423Ser
XM_005252821.2:c.1266G>T	XP_005252878.2:p.Arg422Ser
XM_005252822.3:c.1233G>T	XP_005252879.1:p.Arg411Ser
XM_005252823.3:c.1230G>T	XP_005252880.1:p.Arg410Ser
XM_011519949.1:c.1218G>T	XP_011518251.1:p.Arg406Ser
XM_005252820.3:c.1269G>T	XP_005252877.2:p.Arg423Ser
XM_005252821.3:c.1266G>T	XP_005252878.2:p.Arg422Ser
XM_005252822.4:c.1233G>T	XP_005252879.1:p.Arg411Ser
XM_011519949.2:c.1218G>T	XP_011518251.1:p.Arg406Ser
NM_001142649.2:c.1308G>T	NP_001136121.1:p.Arg436Ser
NM_213599.3:c.1311G>T MANE Select	NP_998764.1:p.Arg437Ser