Canonical Allele Identifier: CA379921397

Gene: ANO5

Linked Data

• MyVariant Identifiers: chr11:g.22276938G>T (hg19) ; chr11:g.22255392G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22255392G>T , CM000673.2:g.22255392G>T	GRCh38
NC_000011.9:g.22276938G>T , CM000673.1:g.22276938G>T	GRCh37
NC_000011.8:g.22233514G>T	NCBI36
NG_015844.1:g.67217G>T , LRG_868:g.67217G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682089.1:n.522G>T
ENST00000682266.1:c.752G>T	ENSP00000507766.1:p.Trp251Leu
ENST00000682341.1:c.1160G>T	ENSP00000508251.1:p.Trp387Leu
ENST00000682530.1:c.*1134G>T	ENSP00000506805.1:n.*1134G>T
ENST00000683197.1:c.1160G>T	ENSP00000507641.1:p.Trp387Leu
ENST00000683411.1:c.752G>T	ENSP00000508397.1:p.Trp251Leu
ENST00000683437.1:c.752G>T	ENSP00000508408.1:p.Trp251Leu
ENST00000683613.1:n.2196G>T
ENST00000683834.1:n.1402G>T
ENST00000684663.1:c.1157G>T	ENSP00000508009.1:p.Trp386Leu
ENST00000324559.9:c.1202G>T MANE Select	ENSP00000315371.9:p.Trp401Leu
ENST00000648804.1:n.1537G>T
ENST00000324559.8:c.1202G>T	ENSP00000315371.8:p.Trp401Leu
NM_001142649.1:c.1199G>T	NP_001136121.1:p.Trp400Leu
NM_213599.2:c.1202G>T , LRG_868t1:c.1202G>T	NP_998764.1:p.Trp401Leu
XM_005252820.2:c.1160G>T	XP_005252877.2:p.Trp387Leu
XM_005252821.2:c.1157G>T	XP_005252878.2:p.Trp386Leu
XM_005252822.3:c.1124G>T	XP_005252879.1:p.Trp375Leu
XM_005252823.3:c.1121G>T	XP_005252880.1:p.Trp374Leu
XM_011519949.1:c.1109G>T	XP_011518251.1:p.Trp370Leu
XM_005252820.3:c.1160G>T	XP_005252877.2:p.Trp387Leu
XM_005252821.3:c.1157G>T	XP_005252878.2:p.Trp386Leu
XM_005252822.4:c.1124G>T	XP_005252879.1:p.Trp375Leu
XM_011519949.2:c.1109G>T	XP_011518251.1:p.Trp370Leu
NM_001142649.2:c.1199G>T	NP_001136121.1:p.Trp400Leu
NM_213599.3:c.1202G>T MANE Select	NP_998764.1:p.Trp401Leu